Phenotypic deficits in mice expressing a myosin binding protein C lacking the titin and myosin binding domains.

Abstract excerpt

The majority of familial hypertrophic cardiomyopathy patients carrying a mutation in the cardiac myosin binding protein C gene show low penetrance, late onset of the disease and a relatively benign phenotype. Sudden death in these patients, if it occurs, usually takes place after the fifth or sixth decade of life and can be precipitated by stress. Previously, we prepared mice carrying a mutated MyBP-C lacking...

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