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Article

Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis.

Journal of molecular and cellular cardiology - 1 Oct 2003

Oliveira Sandra Marisa J, Ehtisham Javed, Redwood Charles S, Ostman-Smith Ingegerd, Blair Edward M, Watkins Hugh

Abstract excerpt

Familial hypertrophic cardiomyopathy (HCM) has been defined as a disease of the cardiac sarcomere, although sarcomeric protein mutations are not found in one third of cases. We have recently shown that HCM associated with Wolff-Parkinson-White syndrome (WPW) and conduction disease can be caused by mutations in PRKAG2, which encodes the gamma2 subunit of AMPK, an enzyme central to cellular energy homeostasis. AMPK...

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Source

Identifiers

PMID: 14519435
DOI: 10.1016/s0022-2828(03)00237-2

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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Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis.PMID 14519435Read ↗

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