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Identification of the pathogenic effects of missense variants causing PRKAG2 cardiomyopathy.

Archives of biochemistry and biophysics - 30 Sept 2022

Komurcu-Bayrak Evrim, Kalkan Muhammed Abdulvahid, Coban Neslihan, Ozsait-Selcuk Bilge, Bayrak Fatih

Abstract excerpt

BACKGROUND: Pathogenic missense variants in PRKAG2, the gene for the gamma 2 regulatory subunit of adenosine monophosphate-activated protein kinase (AMPK), cause severe progressive cardiac disease and sudden cardiac death, named PRKAG2 cardiomyopathy. In our previous study, we reported a E506K variant in the PRKAG2 gene that was associated with this disease. This study aimed to functionally characterize the three...

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PMID: 35787834
DOI: 10.1016/j.abb.2022.109340

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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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