Article
Metavinculin mutations alter actin interaction in dilated cardiomyopathy.
Circulation - 29 Jan 2002
Olson Timothy M, Illenberger Susanne, Kishimoto Nina Y, Huttelmaier Stefan, Keating Mark T, Jockusch Brigitte M
Abstract excerpt
BACKGROUND: Vinculin and its isoform metavinculin are protein components of intercalated discs, structures that anchor thin filaments and transmit contractile force between cardiac myocytes. We tested the hypothesis that heritable dysfunction of metavinculin may contribute to the pathogenesis of dilated cardiomyopathy (DCM). METHODS AND RESULTS: We performed mutational analyses of the metavinculin-specific exon...
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