Article
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.
Science (New York, N.Y.) - 1 May 1998
Olson T M, Michels V V, Thibodeau S N, Tai Y S, Keating M T
Abstract excerpt
To test the hypothesis that actin dysfunction leads to heart failure, patients with hereditary idiopathic dilated cardiomyopathy (IDC) were examined for mutations in the cardiac actin gene (ACTC). Missense mutations in ACTC that cosegregate with IDC were identified in two unrelated families. Both mutations affect universally conserved amino acids in domains of actin that attach to Z bands and intercalated discs....
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