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
Duchenne and Becker Muscular Dystrophy: From Gene Diagnosis to Molecular Therapy
โ Scribed by Masafumi Matsuo
- Book ID
- 111741328
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 56 KB
- Volume
- 53
- Category
- Article
- ISSN
- 1521-6543
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One third of mutations responsible for Duchenne or Becker muscular dystrophy (DMD/BMD) represent point mutations or other small sequence alterations not readily detectable by Southern blot analysis or multiplex amplification. Here, we report results of a comprehensive point mutation search that yiel
Recent advances in molecular genetics have led to the isolation of the gene defective in patients with Duchenne and Becker's muscular dystrophy and the characterization of its protein product, dystrophin. In this communication, the developments culminating in the identification of the Duchenne muscu