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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Detalles Bibliográficos
Autores principales: Beyzaei, Zahra, Ezgu, Fatih, Geramizadeh, Bita, Alborzi, Alireza, Shojazadeh, Alireza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7845137/
https://www.ncbi.nlm.nih.gov/pubmed/33509202
http://dx.doi.org/10.1186/s12920-021-00879-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7845137/
https://www.ncbi.nlm.nih.gov/pubmed/33509202
http://dx.doi.org/10.1186/s12920-021-00879-1

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