title: Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.
abstract: OBJECTIVE
  To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
  
  
  METHODS
  Patients with a phenotype suggestive of a motor, non-length-dependent neuronopathy predominantly affecting the lower limbs were identified at participating neuromuscular centers and referred for targeted sequencing of DYNC1H1.
  
  
  RESULTS
  We report a cohort of 30 cases of SMA-LED from 16 families, carrying mutations in the tail and motor domains of DYNC1H1, including 10 novel mutations. These patients are characterized by congenital or childhood-onset lower limb wasting and weakness frequently associated with cognitive impairment. The clinical severity is variable, ranging from generalized arthrogryposis and inability to ambulate to exclusive and mild lower limb weakness. In many individuals with cognitive impairment (9/30 had cognitive impairment) who underwent brain MRI, there was an underlying structural malformation resulting in polymicrogyric appearance. The lower limb muscle MRI shows a distinctive pattern suggestive of denervation characterized by sparing and relative hypertrophy of the adductor longus and semitendinosus muscles at the thigh level, and diffuse involvement with relative sparing of the anterior-medial muscles at the calf level. Proximal muscle histopathology did not always show classic neurogenic features.
  
  
  CONCLUSIONS
  Our report expands the clinical spectrum of DYNC1H1-related SMA-LED to include generalized arthrogryposis. In addition, we report that the neurogenic peripheral pathology and the CNS neuronal migration defects are often associated, reinforcing the importance of DYNC1H1 in both central and peripheral neuronal functions.
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Mariacristina
authors.initials: M
authors.lastname: Scoto
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Alexander M
authors.initials: AM
authors.lastname: Rossor
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Matthew B
authors.initials: MB
authors.lastname: Harms
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Sebahattin
authors.initials: S
authors.lastname: Cirak
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Mattia
authors.initials: M
authors.lastname: Calissano
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Robb
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Adnan Y
authors.initials: AY
authors.lastname: Manzur
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Amaia
authors.initials: A
authors.lastname: Martínez Arroyo
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Aida
authors.initials: A
authors.lastname: Rodriguez Sanz
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Sahar
authors.initials: S
authors.lastname: Mansour
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Penny
authors.initials: P
authors.lastname: Fallon
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Irene
authors.initials: I
authors.lastname: Hadjikoumi
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Andrea
authors.initials: A
authors.lastname: Klein
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Michele
authors.initials: M
authors.lastname: Yang
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Marianne
authors.initials: M
authors.lastname: De Visser
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: W C G Truus
authors.initials: WC
authors.lastname: Overweg-Plandsoen
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Frank
authors.initials: F
authors.lastname: Baas
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: J Paul
authors.initials: JP
authors.lastname: Taylor
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Michael
authors.initials: M
authors.lastname: Benatar
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Anne M
authors.initials: AM
authors.lastname: Connolly
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Muhammad T
authors.initials: MT
authors.lastname: Al-Lozi
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: John
authors.initials: J
authors.lastname: Nixon
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Christian G E L
authors.initials: CG
authors.lastname: de Goede
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: A Reghan
authors.initials: AR
authors.lastname: Foley
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Catherine
authors.initials: C
authors.lastname: Mcwilliam
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Matthew
authors.initials: M
authors.lastname: Pitt
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Caroline
authors.initials: C
authors.lastname: Sewry
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Rahul
authors.initials: R
authors.lastname: Phadke
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Majid
authors.initials: M
authors.lastname: Hafezparast
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: W K Kling
authors.initials: WK
authors.lastname: Chong
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Eugenio
authors.initials: E
authors.lastname: Mercuri
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Robert H
authors.initials: RH
authors.lastname: Baloh
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
authors.forename: Mary M
authors.initials: MM
authors.lastname: Reilly
authors.affiliation: From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK. f.muntoni@ucl.ac.uk.
authors.forename: Francesco
authors.initials: F
authors.lastname: Muntoni
mesh_terms: D000293:Adolescent; D000328:Adult; D000369:Aged, 80 and over; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D056445:Cytoplasmic Dyneins / Q000235:genetics*; D005190:Family; D006801:Humans; D007223:Infant; D007866:Leg / Q000473:pathology / Q000503:physiopathology; D008875:Middle Aged; D009134:Muscular Atrophy, Spinal / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009154:Mutation; D010641:Phenotype; D055815:Young Adult
chemical_list: C511240:DYNC1H1 protein, human; D056445:Cytoplasmic Dyneins