Article
Genotype-phenotype correlations in familial hypertrophic cardiomyopathy. A comparison between mutations in the cardiac protein-C and the beta-myosin heavy chain genes.
European heart journal - 1 Jan 1998
Charron P, Dubourg O, Desnos M, Isnard R, Hagege A, Bonne G, Carrier L, Tesson F, Bouhour J B, Buzzi J C, Feingold J, Schwartz K, Komajda M
Abstract excerpt
BACKGROUND: The gene involved in familial hypertrophic cardiomyopathy on chromosome 11 was recently identified as the cardiac myosin binding protein-C (MyBP-C) gene. The phenotype of two families associated with mutation in this gene is described here and compared to that of five families with mutations in the beta-myosin heavy chain gene. METHODS AND RESULTS: In adults (n = 33) bearing a splice acceptor site...
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