Genetic epidemiology of Duchenne and Becker muscular dystrophy in Slovenia
✍ Scribed by B. Peterlin; J. Zidar; M. Meznarič-Petruša; N. Zupančič
- Book ID
- 110887588
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 342 KB
- Volume
- 51
- Category
- Article
- ISSN
- 0009-9163
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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
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