Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D
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چکیده
منابع مشابه
Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D
BACKGROUND Desmin-related myopathy (DRM) is an autosomally inherited skeletal and cardiac myopathy, mainly caused by dominant mutations in the desmin gene (DES). We describe new families carrying the p.S13F or p.N342D DES mutations, the cardiac phenotype of all carriers, and the founder effects. METHODS We collected the clinical details of all carriers of p.S13F or p.N342D. The founder effect...
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ژورنال
عنوان ژورنال: Netherlands Heart Journal
سال: 2012
ISSN: 1568-5888,1876-6250
DOI: 10.1007/s12471-011-0233-y