title: DYSF mutation analysis in a group of Chinese patients with dysferlinopathy.
abstract: OBJECTIVE
  Dysferlinopathies belong to heterogeneous group of autosomal recessive muscular disorders caused by mutations in the gene encoding dysferlin. The classifications of the dysferlinopathies mainly include limb-girdle muscular dystrophy 2B (LGMD2B) with predominantly proximal weakness, Miyoshi myopathy (MM) with calf muscle weakness and atrophy, and distal myopathy with anterior tibial onset (DMAT) with tibialis muscle atrophy. We describe the genetic character of dysferlinopathies in a group of Chinese patients.
  
  
  METHODS
  DYSF mutations screening were done after muscle biopsy and immunohistochemical staining.
  
  
  RESULTS
  Eight patients showed an absence or drastic decrease of dysferlin expression in biopsied muscle. We identified 6 different mutations, including one nonsense mutation, two insertion mutation, two deletion mutations and one splice site mutation. Five of them were novel mutations.
  
  
  CONCLUSIONS
  We described 8 Chinese patients with dysferlinopathy (four had a distal phenotype of MM; one had a phenotype of DMAT and three presented with LGMD2B). It is the first report of genetic confirmed DMAT in China. Mutations c.3112C>T and c.1045dup, may be recurrent mutations in China.
authors.affiliation: Department of Neuromuscular Disease, Third Hospital of Hebei Medical University, Shijiazhuang, PR China.
authors.forename: Zhe
authors.initials: Z
authors.lastname: Zhao
authors.forename: Jing
authors.initials: J
authors.lastname: Hu
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Sakiyama
authors.forename: Yuji
authors.initials: Y
authors.lastname: Okamoto
authors.forename: Itsuro
authors.initials: I
authors.lastname: Higuchi
authors.forename: Na
authors.initials: N
authors.lastname: Li
authors.forename: Hongrui
authors.initials: H
authors.lastname: Shen
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takashima
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D044466:Asian People; D001706:Biopsy; D003402:Creatine Kinase / Q000378:metabolism; D004252:DNA Mutational Analysis; D049310:Distal Myopathies; D000073939:Dysferlin; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency / Q000235:genetics*; D009124:Muscle Proteins / Q000172:deficiency / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D009133:Muscular Atrophy; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics* / Q000473:pathology; D009419:Nerve Tissue Proteins / Q000378:metabolism; D010641:Phenotype; D055815:Young Adult
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins; D009419:Nerve Tissue Proteins; D003402:Creatine Kinase