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
Molecular genetic characteristics of Duchenne-Becker muscular dystrophy in the Republic of Moldova
โ Scribed by V. Sacare
- Book ID
- 110199637
- Publisher
- SP MAIK Nauka/Interperiodica
- Year
- 2008
- Tongue
- English
- Weight
- 163 KB
- Volume
- 44
- Category
- Article
- ISSN
- 1022-7954
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A total of 56 Duchenne muscular dystrophy (DMD) patients and 11 Becker muscular dystrophy (BMD) patients was analyzed by extended "multiplex" amplification of the DMD/BMD gene; deletions were found in 60% of these patients. The data obtained were used to test the frameshift hypothesis and to compare
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