[Genetic analysis of 60 Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) patients using...

We have studied 60 unrelated Chinese Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) patients using dystrophin cDNA. Thirty-two mutations (53%) were detected, 31 deletions and 1 duplication. The major deletion-rich region is located in the center of the dystrophin locus. This region includes the last four exons covered by cDNA 5b-7 and all exons detected by cDNA 8. No correlation was observed between the location or length of the deletions and the clinical phenotypes of the patients.