Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3081855 | Neuromuscular Disorders | 2006 | 5 Pages |
Abstract
Mutations in the gene encoding the γ2 subunit of AMP-activated protein kinase (PRKAG2) cause familial cardiac hypertrophy and electrophysiological abnormalities, with glycogen accumulation in the heart of affected patients. The authors describe a 38-year-old man with a new heterozygous PRKAG2 mutation (Ser548Pro) manifesting by hypertrophic cardiomyopathy, severe conduction system abnormalities, and skeletal muscle glycogenosis. Considering those results, PRKAG2 gene could be a potential candidate for unexplained muscle glycogenosis associated with cardiac abnormalities.
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Authors
Pascal Laforêt, Pascale Richard, Mina Ait Said, Norma Beatriz Romero, Emmanuelle Lacene, Jean-Paul Leroy, Christiane Baussan, Jean-Yves Hogrel, Thomas Lavergne, Karim Wahbi, Bernard Hainque, Denis Duboc,