title: Muscle magnetic resonance imaging in congenital myasthenic syndromes.
abstract: In this study we investigated muscle magnetic resonance imaging in congenital myasthenic syndromes (CMS).
  
  
  
  Twenty-six patients with 9 CMS subtypes and 10 controls were imaged. T1-weighted (T1w) and short-tau inversion recovery (STIR) 3-Tesla MRI images obtained at thigh and calf levels were scored for severity.
  
  
  
  Overall mean the T1w score was increased in GFPT1 and DPAGT1 CMS. T1w scans of the AChR-deficiency, COLQ, and CHAT subjects were indistinguishable from controls. STIR images from CMS patients did not differ significantly from those of controls. Mean T1w score correlated with age in the CMS cohort.
  
  
  
  MRI appearances ranged from normal to marked abnormality. T1w images seem to be especially abnormal in some CMS caused by mutations of proteins involved in the glycosylation pathway. A non-selective pattern of fat infiltration or a normal-appearing scan in the setting of significant clinical weakness should suggest CMS as a potential diagnosis. Muscle MRI could play a role in differentiating CMS subtypes. Muscle Nerve 54: 211-219, 2016.
authors.affiliation: Nuffield Department of Clinical Neurosciences, University of Oxford and Oxford Radcliffe Hospitals NHS Trust, Oxford, UK.
authors.forename: Sarah
authors.initials: S
authors.lastname: Finlayson
authors.affiliation: MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.
authors.forename: Jasper M
authors.initials: JM
authors.lastname: Morrow
authors.affiliation: Nuffield Department of Clinical Neurosciences, University of Oxford and Oxford Radcliffe Hospitals NHS Trust, Oxford, UK.
authors.forename: Pedro M
authors.initials: PM
authors.lastname: Rodriguez Cruz
authors.affiliation: MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.
authors.forename: Christopher D J
authors.initials: CD
authors.lastname: Sinclair
authors.affiliation: MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.
authors.forename: Arne
authors.initials: A
authors.lastname: Fischmann
authors.affiliation: MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.
authors.forename: John S
authors.initials: JS
authors.lastname: Thornton
authors.affiliation: University of Oxford Centre for Clinical Magnetic Resonance Research, John Radcliffe Hospital, Oxford, UK.
authors.forename: Steve
authors.initials: S
authors.lastname: Knight
authors.affiliation: University of Oxford Centre for Clinical Magnetic Resonance Research, John Radcliffe Hospital, Oxford, UK.
authors.forename: Ray
authors.initials: R
authors.lastname: Norbury
authors.affiliation: Department of Paediatrics, University of Oxford and Children's Hospital, Oxford, UK.
authors.forename: Mel
authors.initials: M
authors.lastname: White
authors.affiliation: Nuffield Department of Clinical Neurosciences, University of Oxford and Oxford Radcliffe Hospitals NHS Trust, Oxford, UK.
authors.forename: Michal
authors.initials: M
authors.lastname: Al-Hajjar
authors.affiliation: Neurology Department, Hospital San Francesco of Nuoro, Sardinia, Italy.
authors.forename: Nicola
authors.initials: N
authors.lastname: Carboni
authors.affiliation: Department of Paediatrics, University of Oxford and Children's Hospital, Oxford, UK.
authors.forename: Sandeep
authors.initials: S
authors.lastname: Jayawant
authors.affiliation: Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, London, UK.
authors.forename: Stephanie A
authors.initials: SA
authors.lastname: Robb
authors.affiliation: MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.
authors.forename: Tarek A
authors.initials: TA
authors.lastname: Yousry
authors.affiliation: Neurosciences Group, Weatherall Institute of Molecular Medicine, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
authors.forename: David
authors.initials: D
authors.lastname: Beeson
authors.affiliation: Nuffield Department of Clinical Neurosciences, University of Oxford and Oxford Radcliffe Hospitals NHS Trust, Oxford, UK.
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Palace
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging*; D020294:Myasthenic Syndromes, Congenital / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology*; D055815:Young Adult
keywords: MRI; congenital myasthenia; diagnosis; genetic; imaging; muscle