Article
PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.
American heart journal - 1 Jan 2011
Landstrom Andrew P, Adekola Babatunde A, Bos J Martijn, Ommen Steve R, Ackerman Michael J
Abstract excerpt
BACKGROUND: hypertrophic cardiomyopathy (HCM) is a major cause of sudden death in young athletes and one of the most common inherited cardiovascular diseases, affecting 1 in 500 individuals. Often viewed as a disease of the cardiac sarcomere, mutations in genes encoding myofilament proteins are associated with disease pathogenesis. Despite a clinically available genetic test, a significant portion of HCM patients...
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