Functional consequences of mutations in the myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy.

Abstract excerpt

The primary cause of familial hypertrophic cardiomyopathy (FHC) has been attributed to mutations in the genes that encode the contractile proteins of the muscle cell. A majority of these mutations have been found in myosin, the principal component of the thick filament. Most in vitro studies have concluded that FHC mutations cause a loss of function in the biochemical and mechanical properties of myosin....

Topics

• Cardiomyopathy, Hypertrophic, Familial
• Humans
• Mutation
• Myosin Heavy Chains
• Myosins