Article
An abnormal Ca(2+) response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy.
The Journal of clinical investigation - 1 Dec 2000
Fatkin D, McConnell B K, Mudd J O, Semsarian C, Moskowitz I G, Schoen F J, Giewat M, Seidman C E, Seidman J G
Abstract excerpt
Dominant-negative sarcomere protein gene mutations cause familial hypertrophic cardiomyopathy (FHC), a disease characterized by left-ventricular hypertrophy, angina, and dyspnea that can result in sudden death. We report here that a murine model of FHC bearing a cardiac myosin heavy-chain gene missense mutation (alphaMHC(403/+)), when treated with calcineurin inhibitors or a K(+)-channel agonist, developed...
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