Patterns of exon deletions in Duchenne and Becker muscular dystrophy
โ Scribed by A. P. Read; R. C. Mountford; S. M. Forrest; S. J. Kenwrick; K. E. Davies; R. Harris
- Publisher
- Springer
- Year
- 1988
- Tongue
- English
- Weight
- 475 KB
- Volume
- 80
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
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We studied 38 unrelated patients from southern France with Duchenne (DMD) or Becker (BMD) muscular dystrophy for intragenic deletions of the DMD/BMD gene. We used both multiplex amplification of selected exons and cDNA probes. Of the 26 (68%) unrelated individuals found to have deletions, 24 (92%) w
Duchenne muscular dystrophy (DMD) is a progressive and lethal neuromuscular disorder caused by a defective gene on the X chromosome. There is no effective treatment and the biochemical defect is yet unknown. Mapping of the DMD locus to band Xp21 in the short arm of the X chromosome has given rise to