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Article

Novel PRKAG2 variant presenting as liver cirrhosis: report of a family with 2 cases and review of literature.

BMC medical genomics - 28 Jan 2021

Beyzaei Zahra, Ezgu Fatih, Geramizadeh Bita, Alborzi Alireza, Shojazadeh Alireza

Abstract excerpt

BACKGROUND: Mutations in the PRKAG2 gene encoding the 5' Adenosine Monophosphate-Activated Protein Kinase (AMPK), specifically in its γ2 regulatory subunit, lead to Glycogen storage disease of heart, fetal congenital disorder (PRKAG2 syndrome). These mutations are rare, and their functional roles have not been fully elucidated. PRKAG2 syndrome is autosomal dominant disorder inherited with full penetrance. It is...

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Identifiers

PMID: 33509202
DOI: 10.1186/s12920-021-00879-1
PMCID: PMC7845137

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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