Article
Obstructive hypertrophic cardiomyopathy is associated with reduced expression of vinculin in the intercalated disc.
Biochemical and biophysical research communications - 20 Oct 2006
Vasile Vlad C, Edwards William D, Ommen Steve R, Ackerman Michael J
Abstract excerpt
Mutations in the cardiac-specific insert of vinculin, metavinculin, rarely cause hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). Subsequently, a missense mutation in the ubiquitously expressed vinculin was discovered in a patient with obstructive HCM. Microscopic examination of both myectomy specimens from patients bearing genetic defects in metavinculin and vinculin showed a marked reduction...
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