Glycogen Storage Diseases Presenting as Hypertrophic Cardiomyopathy
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Open Access
- 27 January 2005
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 352 (4) , 362-372
- https://doi.org/10.1056/nejmoa033349
Abstract
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 γ2 (PRKAG2) cause an accumulation of cardiac glycogen and left ventricular hypertrophy that mimics hypertrophic cardiomyopathy, we hypothesized that hypertrophic cardiomyopathy might also be clinically misdiagnosed in patients with other mutations in genes regulating glycogen metabolism.Keywords
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