Article
Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective.
Journal of the American College of Cardiology - 19 Jun 2002
Ackerman Michael J, VanDriest Sara L, Ommen Steve R, Will Melissa L, Nishimura Rick A, Tajik A Jamil, Gersh Bernard J
Abstract excerpt
OBJECTIVES: The goal of this study was to determine the prevalence of "malignant" mutations in hypertrophic cardiomyopathy (HCM). BACKGROUND: Previous genotype-phenotype studies have implicated four mutations (R403Q, R453C, G716R and R719W) as highly malignant defects in the beta-myosin heavy chain (MYH7). In the cardiac troponin T gene (TNNT2), a specific mutation (R92W) has been associated with high risk of...
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