Article
POLG mutations in Australian patients with mitochondrial disease.
Internal medicine journal - 1 Feb 2013
Woodbridge P, Liang C, Davis R L, Vandebona H, Sue C M
Abstract excerpt
BACKGROUND/AIM: The nuclear POLG gene encodes the catalytic subunit of DNA polymerase gamma (polγ), the only polymerase involved in the replication and proofreading of mitochondrial DNA. As a consequence, POLG mutations can cause disease through impaired replication of mitochondrial DNA. To date, over 150 different mutations have been identified, with a growing number of associated phenotypes described. The aim...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.