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Published on: August 8, 2022
A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular
Pascal Laforêt1, Pascale Richard, Mina Ait Said
1Institut de Myologie, Bâtiment Babinski, Groupe Hospitalier Pitié-Salpêtrière, Paris, France. pascal.laforet@psl.ap-hop-paris.fr
Abstract:
Mutations in the gene encoding the gamma2 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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