Molecular deletion patterns in Duchenne and Becker type muscular dystrophy
โ Scribed by S. Liechti-Gallati; M. Koenig; L. M. Kunkel; D. Frey; E. Boltshauser; V. Schneider; S. Braga; H. Moser
- Publisher
- Springer
- Year
- 1989
- Tongue
- English
- Weight
- 583 KB
- Volume
- 81
- Category
- Article
- ISSN
- 0340-6717
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We studied 38 unrelated patients from southern France with Duchenne (DMD) or Becker (BMD) muscular dystrophy for intragenic deletions of the DMD/BMD gene. We used both multiplex amplification of selected exons and cDNA probes. Of the 26 (68%) unrelated individuals found to have deletions, 24 (92%) w
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
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