Article
Mitochondrial DNA polymerase-gamma and human disease.
Human molecular genetics - 15 Oct 2006
Hudson Gavin, Chinnery Patrick F
Abstract excerpt
The maintenance of mitochondrial DNA (mtDNA) is critically dependent upon polymerase-gamma (pol-gamma), encoded by the nuclear gene POLG. Over the last 5 years, it has become clear that mutations of POLG are a major cause of human disease. Secondary mtDNA defects characterize these disorders, with mtDNA depletion, multiple mtDNA deletions or multiple point mutations of mtDNA in clinically affected tissues. The...
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