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Article

Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.

The Journal of clinical investigation - 1 Feb 2002

Arad Michael, Benson D Woodrow, Perez-Atayde Antonio R, McKenna William J, Sparks Elizabeth A, Kanter Ronald J, McGarry Kate, Seidman J G, Seidman Christine E

Abstract excerpt

Mutations in PRKAG2, the gene for the gamma 2 regulatory subunit of AMP-activated protein kinase, cause cardiac hypertrophy and electrophysiologic abnormalities, particularly preexcitation (Wolff-Parkinson-White syndrome) and atrioventricular conduction block. To understand the mechanisms by which PRKAG2 defects cause disease, we defined novel mutations, characterized the associated cardiac histopathology, and...

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Topics

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Share to AMP-Activated Protein Kinases
Share to Cardiomyopathy, Hypertrophic, Familial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Fungal

Share to Glycogen Storage Disease

Share to Multienzyme Complexes

Share to Protein Kinases

Share to Protein Serine-Threonine Kinases

Share to Transformation, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 11827995
DOI: 10.1172/JCI14571
PMCID: PMC150860

Genes

PRKAG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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