Article
Cardiac troponin T is essential in sarcomere assembly and cardiac contractility.
Nature genetics - 1 May 2002
Sehnert Amy J, Huq Anja, Weinstein Brant M, Walker Charline, Fishman Mark, Stainier Didier Y R
Abstract excerpt
Mutations of the gene (TNNT2) encoding the thin-filament contractile protein cardiac troponin T are responsible for 15% of all cases of familial hypertrophic cardiomyopathy, the leading cause of sudden death in young athletes. Mutant proteins are thought to act through a dominant-negative mode that impairs function of heart muscle. TNNT2 mutations can also lead to dilated cardiomyopathy, a leading cause of heart...
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