Article
Early expression of a malignant phenotype of familial hypertrophic cardiomyopathy associated with a Gly716Arg myosin heavy chain mutation in a Korean family.
The American journal of cardiology - 15 Dec 1998
Hwang T H, Lee W H, Kimura A, Satoh M, Nakamura T, Kim M K, Choi S K, Park J E
Abstract excerpt
The clinical course and prognosis of familial hypertrophic cardiomyopathy (HCM) are different according to the type of mutation in the genes for sarcomere proteins. It has been disputed that a mutation, which occurs at a functionally important region in the sarcomere proteins, may increase the penetrance and expressivity of the disease. We searched for a causative mutation in an HCM family, which is characterized...
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