title: Duchenne or Becker muscular dystrophy: a clinical, genetic and immunohistochemical study in China.
abstract: OBJECTIVE
  Duchenne and Becker muscular dystrophies are X-linked diseases caused by mutations in the dystrophin gene, which affect approximately 1 in 3,500 and 1 in 18,000 boys, respectively. The aim of this work was to develop a method to assist the diagnosis and classification of the disease.
  
  
  METHODS
  A large data set of dystrophin mutations was detected in 167 Chinese patients by multiplex ligation-dependent probe amplification and sequencing. Muscle biopsy, immunohistochemistry and STR analysis were also carried out in the patients and carriers.
  
  
  RESULTS
  One hundred and three deletions, 23 duplications and two-point mutations. The deletion of one or more exons was detected in 103 (61.7%) patients. The region spanning exons 44-55 was the most frequent deletion. The duplication was identified in 23 (13.8%) patients, which was more common than previously reported. Most duplications were found in exons 2-18. Six out of the 45 muscle biopsies analyzed showed the presence of other muscle diseases.
  
  
  CONCLUSIONS
  This study may be important to enable comparisons of mutation type and the most appropriate analytical approach for samples from different geographical areas and ethnicities.
authors.affiliation: Department of Medicine, Senior Profession College, China Medical University, Shenyang, China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Wang
authors.forename: Xiaofeng
authors.initials: X
authors.lastname: Yang
authors.forename: Yang
authors.initials: Y
authors.lastname: Yan
authors.forename: Nan
authors.initials: N
authors.lastname: Song
authors.forename: Changkun
authors.initials: C
authors.lastname: Lin
authors.forename: Chunlian
authors.initials: C
authors.lastname: Jin
mesh_terms: D000293:Adolescent; D000328:Adult; D002097:C-Reactive Protein / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000378:metabolism; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008232:Lymphoproliferative Disorders / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D009154:Mutation / Q000235:genetics*; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D016189:Dystrophin; D002097:C-Reactive Protein