Article
Glycogen storage diseases presenting as hypertrophic cardiomyopathy.
The New England journal of medicine - 27 Jan 2005
Arad Michael, Maron Barry J, Gorham Joshua M, Johnson Walter H, Saul J Philip, Perez-Atayde Antonio R, Spirito Paolo, Wright Gregory B, Kanter Ronald J, Seidman Christine E, Seidman J G
Abstract excerpt
BACKGROUND: Unexplained left ventricular hypertrophy often prompts the diagnosis of hypertrophic cardiomyopathy, a sarcomere-protein gene disorder. Because mutations in the gene for AMP-activated protein kinase gamma2 (PRKAG2) cause an accumulation of cardiac glycogen and left ventricular hypertrophy that mimics hypertrophic cardiomyopathy, we hypothesized that hypertrophic cardiomyopathy might also be clinically...
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