Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.

Stewart JD, Tennant S, Powell H, Pyle A, Blakely EL, He L, Hudson G, Roberts M, du Plessis D, Gow D, Mewasingh LD, Hanna MG, Omer S, Morris AA, Roxburgh R, Livingston JH, McFarland R, Turnbull DM, Chinnery PF, Taylor RW
Journal of medical genetics (2009), Volume 46, Page 209
PubMed entry Publisher's site

Abstract:

The POLG1 gene encodes the catalytic subunit of DNA polymerase gamma, ...
The POLG1 gene encodes the catalytic subunit of DNA polymerase gamma, essential for mitochondrial DNA replication and repair. Mutations in POLG1 have been linked to a spectrum of clinical phenotypes, and may account for up to 25% of all adult presentations of mitochondrial disease.

Polymerases:

Human Pol gamma A467T,Human Pol gamma P587L,Human Pol gamma R597W,Human Pol gamma L605R,Human Pol gamma G746S,Human Pol gamma W748S,Human Pol gamma G848S,Human Pol gamma R852C,Human Pol gamma A862T,Human Pol gamma G11D,Human Pol gamma T251I,Human Pol gamma R1047W,Human Pol gamma E1143G

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