Article
Effects of a cardiomyopathy-causing troponin t mutation on thin filament function and structure.
The Journal of biological chemistry - 8 Jun 2001
Burhop J, Rosol M, Craig R, Tobacman L S, Lehman W
Abstract excerpt
Familial hypertrophic cardiomyopathy (FHC) is caused by missense or premature truncation mutations in proteins of the cardiac contractile apparatus. Mutant proteins are incorporated into the thin filament or thick filament and eventually produce cardiomyopathy. However, it has been unclear how the several, genetically identified defects in protein structure translate into impaired protein and muscle function. We...
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