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Molecular deletion patterns in Duchenne and Becker type muscular dystrophy

โœ 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

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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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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