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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2021
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| Materias: | |
| 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 |