Article
Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy.
Circulation. Cardiovascular genetics - 1 Oct 2012
Lakdawala Neal K, Thune Jens J, Colan Steven D, Cirino Allison L, Farrohi Faranak, Rivero Jose, McDonough Barbara, Sparks Elizabeth, Orav E J, Seidman J G, Seidman Christine E, Ho Carolyn Y
Abstract excerpt
BACKGROUND: Sarcomere mutations cause both dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM); however, the steps leading from mutation to disease are not well described. By studying mutation carriers before a clinical diagnosis develops, we characterize the early manifestations of sarcomere mutations in DCM and investigate how these manifestations differ from sarcomere mutations associated with...
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