title: Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.
abstract: OBJECTIVE
  Dysferlinopathies are a group of autosomal recessive muscular dystrophies caused by mutations in the dysferlin gene. This study presents clinical features and the mutational spectrum in the largest cohort of Chinese patients analyzed to date.
  
  
  METHODS
  A total of 36 unrelated Chinese patients with diagnostic suspicion of dysferlinopathy were clinically and genetically characterized.
  
  
  RESULTS
  Patients were divided into five phenotypes: 19 patients with limb girdle muscular dystrophy (LGMD) type 2B, 10 with Miyoshi myopathy (MM), 1 with distal anterior compartment myopathy (DACM), 3 with exercise intolerance, and 3 with asymptomatic hypercreatine phosphokinasemia (hyperCPKemia). Thirty-one patients showed an absence or drastic reduction of dysferlin expression by Westernblot. Forty-three mutations were identified in DYSF, including 31 novel.
  
  
  CONCLUSIONS
  Our study underlines clinical heterogeneity and a high proportion of novel mutations in Chinese patients affected with dysferlinopathy.
authors.forename: Jianying
authors.initials: J
authors.lastname: Xi
authors.forename: Gaelle
authors.initials: G
authors.lastname: Blandin
authors.forename: Jiahong
authors.initials: J
authors.lastname: Lu
authors.forename: Sushan
authors.initials: S
authors.lastname: Luo
authors.forename: Wenhua
authors.initials: W
authors.lastname: Zhu
authors.forename: Christophe
authors.initials: C
authors.lastname: Béroud
authors.forename: Christophe
authors.initials: C
authors.lastname: Pécheux
authors.forename: Véronique
authors.initials: V
authors.lastname: Labelle
authors.forename: Nicolas
authors.initials: N
authors.lastname: Lévy
authors.forename: Jon Andoni
authors.initials: JA
authors.lastname: Urtizberea
authors.forename: Chongbo
authors.initials: C
authors.lastname: Zhao
authors.affiliation: Aix Marseille University, GMGF, 13385; Inserm, UMR_S 910, 13385; Department of Medical Genetics and Cell Biology, APHM, Children's Hospital La Timone, 13385, Marseille, France.
authors.forename: Martin
authors.initials: M
authors.lastname: Krahn
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D003408:Cresols; D049310:Distal Myopathies / Q000235:genetics*; D004338:Drug Combinations; D000073939:Dysferlin; D005260:Female; D005557:Formaldehyde; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D009133:Muscular Atrophy / Q000235:genetics*; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics*; D009154:Mutation; D012118:Resorcinols; D055815:Young Adult
chemical_list: D003408:Cresols; C114839:DYSF protein, human; D004338:Drug Combinations; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins; D012118:Resorcinols; D005557:Formaldehyde; C050719:phenoaldehyde