Article
Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes.
Heart rhythm - 1 Apr 2009
Posch Maximilian G, Perrot Andreas, Geier Christian, Boldt Leif-Hendrik, Schmidt Gunther, Lehmkuhl Hans B, Hetzer Roland, Dietz Rainer, Gutberlet Matthias, Haverkamp Wilhelm, Ozcelik Cemil
Abstract excerpt
BACKGROUND: Familial dilated cardiomyopathy is a highly heterogeneous genetic disease. Thus, identification of disease-causing mutations is a challenging and time-consuming task. Genotype-phenotype associations may alleviate identification of the underlying mutation. OBJECTIVE: The purpose of this study was to investigate cardiac phenotypes within a family harboring a familial dilated cardiomyopathy-related...
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