Article
Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.
Circulation - 29 Jul 2003
Van Driest Sara L, Ellsworth Erik G, Ommen Steve R, Tajik A Jamil, Gersh Bernard J, Ackerman Michael J
Abstract excerpt
BACKGROUND: Thin filament mutations are reported to cause approximately 20% of cases of hypertrophic cardiomyopathy (HCM), and they have been associated with specific phenotypes. However, the frequency of these mutations and their associated phenotype(s) from a large tertiary referral center population are unknown. METHODS AND RESULTS: DNA was obtained from 389 unrelated patients with HCM. A mutational analysis...
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