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Genetic analysis of 60 Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) patients using dystrophin cDNA


Genetic analysis of 60 Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) patients using dystrophin cDNA



Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae 15(6): 399-404



ISSN/ISBN: 1000-503X

PMID: 8082248

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.

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Accession: 046161364

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