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

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 ha...

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Bibliografiske detaljer
Udgivet i:BMC Med Genomics
Main Authors: Beyzaei, Zahra, Ezgu, Fatih, Geramizadeh, Bita, Alborzi, Alireza, Shojazadeh, Alireza
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2021
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7845137/
https://ncbi.nlm.nih.gov/pubmed/33509202
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-021-00879-1
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