Article
Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy.
Molecular genetics and metabolism - 1 Feb 2006
Vasile Vlad C, Will Melissa L, Ommen Steve R, Edwards William D, Olson Timothy M, Ackerman Michael J
Abstract excerpt
We tested the hypothesis that perturbations in metavinculin may provide a pathogenic substrate for hypertrophic cardiomyopathy (HCM). HCM and dilated cardiomyopathy (DCM) are partially allelic disorders whereby identical genes have been implicated in the pathogenesis of both diseases. Mutations in metavinculin, a muscle-specific isoform of vinculin, were identified previously in DCM and shown to alter in vitro...
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