Molecular genetics of cardiomyopathies.

Abstract excerpt

Familial hypertrophic cardiomyopathy (FHCM) is a heterogeneous disease with an autosomal dominant Mendelian inheritance and variable penetrance. Several mutations in the beta-myosin heavy chain (beta MHC) gene, the first gene identified for this disease, have been described that co-segregate with the inheritance of the disease. All the mutations in the beta MHC gene encode for the globular head of the myosin...

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