Novel PRKAG2 variant presenting as liver cirrhosis: report of a family with 2 cases and review of literature
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...
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| Main Authors: | , , , , |
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| Format: | Book |
| Published: |
BMC,
2021-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |