title: [Study of dystrophin gene non-deletion/duplication mutations causing Becker muscular dystrophy].
abstract: OBJECTIVE
  To identify potential mutations in patients featuring Becker muscular dystrophy (BMD) and to enhance the understanding of non-deletion/duplication mutations of the dystrophin gene causing BMD.
  
  
  METHODS
  Clinical data of two patients affected with BMD were collected. Potential mutations in the dystrophin gene were screened with multiplex ligation-dependent probe amplification assay (MLPA). Biopsied muscle samples were examined with HE staining, immnostaining with anti-dystrophin antibody, and electronic microscopy.
  
  
  RESULTS
  MLPA assay suggested that both cases were probably due to non-deletion/duplication mutations of the dystrophin gene. Light and electronic microcopy of skeletal muscle biopsies confirmed dystrophic changes in both patients. For patient A, immunostaining showed non-contiguous weak staining for most parts of sarcolemma. For patient B, immunostaining showed positive result with N-terminal anti-dystrophin antibody and negative result with C-terminal anti-dystrophin antibody.
  
  
  CONCLUSIONS
  For patients with mild phenotypes but without dystrophin gene deletion/duplication, muscle biopsy and immunochemistry are helpful for diagnosis and prognosis.
authors.affiliation: Department of Neurology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, 510080 P. R. China.
authors.forename: Ji-qing
authors.initials: JQ
authors.lastname: Cao
authors.forename: Cheng
authors.initials: C
authors.lastname: Zhang
authors.forename: Shan-wei
authors.initials: SW
authors.lastname: Feng
authors.forename: Juan
authors.initials: J
authors.lastname: Yang
authors.forename: Zhi
authors.initials: Z
authors.lastname: Li
authors.forename: Meng
authors.initials: M
authors.lastname: Zhang
authors.forename: Shao-ying
authors.initials: SY
authors.lastname: Li
authors.forename: Xiao-fang
authors.initials: XF
authors.lastname: Sun
authors.forename: Yan-yun
authors.initials: YY
authors.lastname: Wang
authors.forename: Ming-ying
authors.initials: MY
authors.lastname: Zheng
authors.forename: Jie
authors.initials: J
authors.lastname: Kong
mesh_terms: D000293:Adolescent; D000328:Adult; D016189:Dystrophin / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D009154:Mutation / Q000235:genetics*
chemical_list: D016189:Dystrophin