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Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy

✍ Scribed by Wolfgang-Michael Franz; Matthias Muller; Oliver J Muller; Ralf Herrmann; Thomas Rothmann; Marion Cremer; Ronald D Cohn; Thomas Voit; Hugo A Katus


Book ID
117275518
Publisher
The Lancet
Year
2000
Tongue
English
Weight
121 KB
Volume
355
Category
Article
ISSN
0140-6736

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X-linked dilated cardiomyopathy (XLDC) represents a form of dystrophinopathy with exclusive heart involvement. Here a prenatal diagnosis of this condition performed in a family with XLDC is described. In this family, the causative mutation was a pure intronic deletion, which induces the splicing of