Two novel POLG mutations causing hepatic mitochondrial DNA depletion with recurrent hypoketotic hypoglycaemia and fatal liver dysfunction.

Bortot B, Barbi E, Biffi S, Lunazzi G, Bussani R, Burlina A, Norbedo S, Ventura A, Carrozzi M, Severini GM
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver (2009), Volume 41, Page 494
PubMed entry Publisher's site

Abstract:

Inherited mtDNA depletion syndromes (MDS) are a group of severe ...
Inherited mtDNA depletion syndromes (MDS) are a group of severe mitochondrial disorders resulting from defects in nucleus-encoded factors and often associated with severe or fatal liver failure.

Polymerases:

Human Pol gamma L623W,Human Pol gamma K755E

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Version:20241007

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