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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

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✍ Susanne Niemann-Seyde; Ryszard Slomski; Frauke Rininsland; Ute Ellermeyer; Jolan 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 723 KB

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