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Arrhythmogenic Dilated Cardiomyopathy Due to a Novel Mutation in the Desmoplakin Gene

✍ Scribed by Sriram Krishnamurthy; B. Adhisivam; Robert M. Hamilton; Berivan Baskin; Niranjan Biswal; Manish Kumar


Publisher
Springer-Verlag
Year
2010
Tongue
English
Weight
219 KB
Volume
78
Category
Article
ISSN
0019-5456

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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