Article
A truncated cardiac troponin T molecule in transgenic mice suggests multiple cellular mechanisms for familial hypertrophic cardiomyopathy.
The Journal of clinical investigation - 15 Jun 1998
Tardiff J C, Factor S M, Tompkins B D, Hewett T E, Palmer B M, Moore R L, Schwartz S, Robbins J, Leinwand L A
Abstract excerpt
Mutations in multiple cardiac sarcomeric proteins including myosin heavy chain (MyHC) and cardiac troponin T (cTnT) cause a dominant genetic heart disease, familial hypertrophic cardiomyopathy (FHC). Patients with mutations in these two genes have quite distinct clinical characteristics. Those with MyHC mutations demonstrate more significant and uniform cardiac hypertrophy and a variable frequency of sudden...
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