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Article

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

PloS one - 1 Jan 2013

Liu Yang, Bai Rong, Wang Lin, Zhang Cuntai, Zhao Ruifu, Wan Deli, Chen Xinshan, Caceres Gabriel, Barr Daniel, Barajas-Martinez Hector, Antzelevitch Charles, Hu Dan

Abstract excerpt

INTRODUCTION: The major structure elements of the AMP-activated protein kinase (AMPK) are α, β, and γ sunbunits. Mutations in γ2 subunit (PRKAG2) have been associated with a cardiac syndrome including inherited ventricular preexcitation, conduction disorder and hypertrophy mimicking hypertrophic cardiomyopathy. The aim of the present study was to identify PRKAG2 syndrome among patients presenting with left...

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Identifiers

PMID: 23741347
DOI: 10.1371/journal.pone.0064603
PMCID: PMC3669303

Genes

PRKAG2

Variants

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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