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Article

PRKAG2 mutations presenting in infancy.

Journal of inherited metabolic disease - 1 Nov 2017

Torok Rachel D, Austin Stephanie L, Phornphutkul Chanika, Rotondo Kathleen M, Bali Deeksha, Tatum Gregory H, Wechsler Stephanie B, Buckley Anne F, Kishnani Priya S

Abstract excerpt

PRKAG2 encodes the γ2 subunit of AMP-activated protein kinase (AMPK), which is an important regulator of cardiac metabolism. Mutations in PRKAG2 cause a cardiac syndrome comprising ventricular hypertrophy, pre-excitation, and progressive conduction-system disease, which is typically not diagnosed until adolescence or young adulthood. However, significant variability exists in the presentation and outcomes of...

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AMP-Activated Protein Kinases
Child, Preschool
PRKAG2 gene
Glycogen Storage Disease Type II
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant, Newborn

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Identifiers

PMID: 28801758
DOI: 10.1007/s10545-017-0072-0

Genes

PRKAG2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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