Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G, Bindoff LA
Neurology (2005), Volume 64, Page 1204
PubMed entry Publisher's site

Abstract:

To investigate three families and one sporadic case with a recessively ...
To investigate three families and one sporadic case with a recessively inherited ataxic syndrome.

Polymerases:

Human Pol gamma A467T,Human Pol gamma Q497H,Human Pol gamma W748S,Human Pol gamma E1143G

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