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pubmed-article:7796500pubmed:abstractTextHypertrophic cardiomyopathy (HCM) is characterized by myocardial hypertrophy of unknown etiology. Missense mutations of the cardiac beta-myosin-heavy-chain (beta-MHC) gene that may be responsible for cardiac hypertrophy have been detected in patients with HCM. On the other hand, gross structural abnormalities in the cardiac beta-MHC gene, ie, an alpha/beta hybrid gene and partial deletion of the gene, have also been reported. The direct correlation between gross abnormalities and development of HCM is not well understood.lld:pubmed
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pubmed-article:7796500pubmed:articleTitleA myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy.lld:pubmed
pubmed-article:7796500pubmed:affiliationThird Department of Internal Medicine, Kurume University School of Medicine, Japan.lld:pubmed
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