title: Single amino acid loss in the dystrophin protein associated with a mild clinical phenotype.
abstract: The dystrophinopathies include a spectrum of muscle diseases caused by mutations in the dystrophin (DMD) gene. The clinical phenotype ranges from severe Duchenne muscular dystrophy to a mild phenotype with elevated creatine kinase (CK).
  
  
  
  Clinical and molecular assessment of 7 patients carrying a single amino acid loss in the dystrophin protein (p.His1690del) caused by a c.5068_5070delCAC tri-nucleotide deletion in exon 36 of the DMD gene.
  
  
  
  All patients were asymptomatic or oligosymptomatic and had elevated CK levels. Febrile illness, but not exercise, induced muscle symptoms in some patients. None had evidence of cardiomyopathy. Analysis of the short tandem repeat (STR)45 locus and sequencing of exon 36 of the DMD gene indicates that c.5068_5070delCAC is a founder mutation.
  
  
  
  The c.5068_5070delCAC locus in the DMD gene is associated with a very mild phenotype. Further study is needed to evaluate disease progression in these patients. Muscle Nerve 55: 46-50, 2017.
authors.affiliation: First Department of Pediatrics, University of Athens, Agia Sophia Children's Hospital, Thivon and Levadias, 11527, Athens, Greece.
authors.forename: Roser
authors.initials: R
authors.lastname: Pons
authors.affiliation: Department of Medical Genetics, University of Athens, Agia Sophia Children's Hospital, Choremio Research Laboratory, Athens, Greece.
authors.forename: Kyriaki
authors.initials: K
authors.lastname: Kekou
authors.affiliation: First Department of Pediatrics, University of Athens, Agia Sophia Children's Hospital, Thivon and Levadias, 11527, Athens, Greece.
authors.forename: Artemis
authors.initials: A
authors.lastname: Gkika
authors.affiliation: Department of Neurology, University of Athens, Aeginition Hospital, Athens, Greece.
authors.forename: George
authors.initials: G
authors.lastname: Papadimas
authors.affiliation: Department of Medical Genetics, University of Athens, Agia Sophia Children's Hospital, Choremio Research Laboratory, Athens, Greece.
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Vogiatzakis
authors.affiliation: Department of Medical Genetics, University of Athens, Agia Sophia Children's Hospital, Choremio Research Laboratory, Athens, Greece.
authors.forename: Maria
authors.initials: M
authors.lastname: Svingou
authors.affiliation: Department of Neurology, University of Athens, Aeginition Hospital, Athens, Greece.
authors.forename: Constantinos
authors.initials: C
authors.lastname: Papadopooulos
authors.affiliation: Imaging Department, Agia Sophia Children's Hospital, Athens, Greece.
authors.forename: Ioanis
authors.initials: I
authors.lastname: Nikas
authors.affiliation: Third Department of Pediatrics, University of Athens, Attiko University Hospital, Athens, Greece.
authors.forename: Argirios
authors.initials: A
authors.lastname: Dinopoulos
authors.affiliation: First Department of Pediatrics, University of Athens, Agia Sophia Children's Hospital, Thivon and Levadias, 11527, Athens, Greece.
authors.forename: Sotiris
authors.initials: S
authors.lastname: Youroukos
authors.affiliation: Department of Medical Genetics, University of Athens, Agia Sophia Children's Hospital, Choremio Research Laboratory, Athens, Greece.
authors.forename: Emmanouel
authors.initials: E
authors.lastname: Kanavakis
mesh_terms: D000293:Adolescent; D000596:Amino Acids / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003402:Creatine Kinase / Q000378:metabolism; D016189:Dystrophin / Q000235:genetics*; D004576:Electromyography; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging / Q000503:physiopathology; D009135:Muscular Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D012189:Retrospective Studies
chemical_list: D000596:Amino Acids; D016189:Dystrophin; D003402:Creatine Kinase
keywords: dystrophin; founder mutation; hyperCKemia; myoglobinuria; myopathy