Prevalence of Desmin Mutations in Dilated Cardiomyopathy
نویسندگان
چکیده
منابع مشابه
Prevalence of desmin mutations in dilated cardiomyopathy.
BACKGROUND Desmin-related myofibrillar myopathy (DRM) is a cardiac and skeletal muscle disease caused by mutations in the desmin (DES) gene. Mutations in the central 2B domain of DES cause skeletal muscle disease that typically precedes cardiac involvement. However, the prevalence of DES mutations in dilated cardiomyopathy (DCM) without skeletal muscle disease is not known. METHODS AND RESULT...
متن کاملDilated cardiomyopathy and the desmin gene.
To the Editor: Li et al1 report a mutation screening study of actin and desmin genes in 44 probands with familial dilated cardiomyopathy (DCM) and conclude that a mutation of the desmin gene can cause DCM. We believe that the genetic data are not yet sufficient to justify this conclusion. Attempts to find genes for autosomal dominant DCM by linkage analysis have been frustrating; although 6 chr...
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BACKGROUND Idiopathic dilated cardiomyopathy, of which approximately 20% of cases are familial (FDCM), is a primary myocardial disorder characterized by ventricular dilatation and impaired systolic function. It is a common cause of heart failure and the need for cardiac transplantation. Although 6 chromosomal loci responsible for autosomal dominant FDCM have been mapped by linkage analysis, non...
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ژورنال
عنوان ژورنال: Circulation
سال: 2007
ISSN: 0009-7322,1524-4539
DOI: 10.1161/circulationaha.106.646778