A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis

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 mutat...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2006-03, Vol.16 (3), p.178-182
Main Authors: Laforêt, Pascal, Richard, Pascale, Said, Mina Ait, Romero, Norma Beatriz, Lacene, Emmanuelle, Leroy, Jean-Paul, Baussan, Christiane, Hogrel, Jean-Yves, Lavergne, Thomas, Wahbi, Karim, Hainque, Bernard, Duboc, Denis
Format: Article
Language:English
Subjects:
Adult
AMP-Activated Protein Kinases
AMPK
Cardiomyopathy, Hypertrophic - genetics
DNA Mutational Analysis - methods
Exercise
Glycogen Storage Disease - genetics
Glycogenosis
Heart Conduction System - physiopathology
Humans
Male
Multienzyme Complexes - genetics
Muscle, Skeletal - pathology
Mutation
PRKAG2
Proline - genetics
Protein-Serine-Threonine Kinases - genetics
Serine - genetics
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Summary: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.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2005.12.004