Article
A new polymorphism in human calmodulin III gene promoter is a potential modifier gene for familial hypertrophic cardiomyopathy.
European heart journal - 1 Jul 2009
Friedrich Felix W, Bausero Pedro, Sun Yuli, Treszl Andras, Krämer Elisabeth, Juhr Denise, Richard Pascale, Wegscheider Karl, Schwartz Ketty, Brito Dulce, Arbustini Eloisa, Waldenström Anders, Isnard Richard, Komajda Michel, Eschenhagen Thomas, Carrier Lucie
Abstract excerpt
AIMS: Familial hypertrophic cardiomyopathy (FHC) is caused by mutations in genes encoding sarcomeric proteins. Incomplete penetrance suggests the existence of modifier genes. Calmodulin (CaM) could be of importance given the key role of Ca(2+) for cardiac contractile function and growth. Any variant that affects CaM expression and/or function may impact on FHC clinical expression. METHODS AND RESULTS: We screened...
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