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Molecular genetic analysis of 67 patients with duchenne/becker muscular dystrophy

✍ Scribed by Susanne Niemann-Seyde; Ryszard Slomski; Frauke Rininsland; Ute Ellermeyer; Jolanta Kwiatkowska; Jochen Reiss

Publisher: Springer
Year: 1992
Tongue: English
Weight: 723 KB
Volume: 90
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00210746

No coin nor oath required. For personal study only.

✦ Synopsis

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 the distribution of familial versus isolated cases. A significant correlation was found between deletions and isolated cases. Additional experiments were performed in order to determine the deletion breakpoints more precisely. These data are a prerequisite for carrier analysis in the respective families by detection or exclusion of aberrant cDNA fragments derived from ectopic lymphocyte RNA. This diagnostic technique is illustrated by 5 examples.

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