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Article

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

Neuromuscular disorders : NMD - 1 Mar 2006

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16487706
DOI: 10.1016/j.nmd.2005.12.004

Genes

PRKAG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16487706-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis.PMID 16487706Read ↗

PRKAG2 cardiac syndrome: familial ventricular preexcitation, conduction system disease, and cardiac hypertrophy.Semantic proximity Read ↗

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Cardiac manifestations of PRKAG2 mutation.Semantic proximity Read ↗

Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.Semantic proximity Read ↗

Identification of a novel de novo mutation associated with PRKAG2 cardiac syndrome and early onset of heart failure.Semantic proximity Read ↗

Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathySemantic proximity Read ↗

Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.Semantic proximity Read ↗

A familial form of conduction defect related to a mutation in the PRKAG2 gene.Semantic proximity Read ↗

[Same genotype and different phenotypes in a family with PRKAG2 gene mutation].Semantic proximity Read ↗

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