## Communicated by Martin Bobrow Duchenne (DMD) and Becker (BMD) type muscular dystrophies are allelic X-linked recessive disorders caused by mutations in the gene encoding dystrophin. About 65% of the cases are caused by deletions, while 5-10% are duplications. The remaining 30% of affected indiv
Microarray-based mutation detection in the dystrophin gene
โ Scribed by Madhuri R. Hegde; Ephrem L.H. Chin; Jennifer G. Mulle; David T. Okou; Stephen T. Warren; Michael E. Zwick
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 579 KB
- Volume
- 29
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
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The mdx mouse, an animal model used to study Duchenne muscular dystrophy, has a nonsense mutation in exon 23 of the dystrophin gene which should result in a truncated protein that cannot be correctly localized at the sarcolemma of the muscle fibers. Immunohistochemical staining with antidystrophin a
## Communicated by Ulf Landegren Duchenne and Becker muscular dystrophy (DMD and BMD) are caused by mutations in the dystrophin gene. Large rearrangements in the gene are found in about two-thirds of DMD patients, with B60% carrying deletions and 5-10% carrying duplications. Most of the remaining