POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

Van Goethem G, Luoma P, Rantamäki M, Al Memar A, Kaakkola S, Hackman P, Krahe R, Löfgren A, Martin JJ, De Jonghe P, Suomalainen A, Udd B, Van Broeckhoven C
Neurology (2004), Volume 63, Page 1251
PubMed entry

Abstract:

To identify POLG mutations in patients with sensory ataxia and CNS ...
To identify POLG mutations in patients with sensory ataxia and CNS features.

Polymerases:

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

Topics:

Status:

new topics/pols set partial results complete validated

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Version:20241007

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