## 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
A novel point mutation in the mcleod syndrome gene in neuroacanthocytosis
β Scribed by Dr M. F. Ho; R. M. Chalmers; M. B. Davis; A. E. Harding; A. P. MD Monaco
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 486 KB
- Volume
- 39
- Category
- Article
- ISSN
- 0364-5134
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Duchenne muscular dystrophy (DMD) is an X-linked degenerative disorder of muscle, caused by gross rearrangements by the dystrophin gene in two-thirds of cases. The remaining one-third of patients may carry more subtle mutations that are difficult to detect because of the large size and complexity of
Waardenburg syndrome (WS) is an autosomal-dominant neural crest cell disorder phenotypically characterized by hearing impairment and disturbance of pigmentation. A presence of dystopia canthorum is indicative of WS type 1, caused by loss of function mutation in the PAX3 gene. In contrast, type 2 WS