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

Authors: Laforet, P  Richard, P  Said, MA  Romero, NB  Lacene, E  Leroy, JP  Baussan, C  Hogrel, JY  Lavergne, T  Wahbi, K  Hainque, B  Duboc, D 
Citation: Laforet P, etal., Neuromuscul Disord. 2006 Mar;16(3):178-82. Epub 2006 Feb 17.
Pubmed: (View Article at PubMed) PMID:16487706
DOI: Full-text: DOI:10.1016/j.nmd.2005.12.004

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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CRRD Object Information
CRRD ID: 1580715
Created: 2006-08-21
Species: All species
Last Modified: 2006-08-21
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.