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

• Autors principals: Zahra Beyzaei (Autor), Fatih Ezgu (Autor), Bita Geramizadeh (Autor), Alireza Alborzi (Autor), Alireza Shojazadeh (Autor)
• Format: Llibre
• Publicat: BMC, 2021-01-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

Abstract 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 functi...