Article
α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.
Circulation. Cardiovascular genetics - 1 Oct 2017
Oder Daniel, Liu Dan, Hu Kai, Üçeyler Nurcan, Salinger Tim, Müntze Jonas, Lorenz Kristina, Kandolf Reinhard, Gröne Hermann-Josef, Sommer Claudia, Ertl Georg, Wanner Christoph, Nordbeck Peter
Abstract excerpt
BACKGROUND: Hypertrophic cardiomyopathy is the most common type of cardiomyopathy, but many patients lack sarcomeric/myofilament mutations. We studied whether cardio-specific α-galactosidase A gene variants are misinterpreted as hypertrophic cardiomyopathy because of the lack of extracardiac organ involvement. METHODS AND RESULTS: All subjects who tested positive for the N215S genotype (n=26, 13 females, mean age...
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