A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism.

Mancuso M, Filosto M, Oh SJ, DiMauro S
Archives of neurology (2004), Volume 61, Page 1777
PubMed entry Publisher's site

Abstract:

Mutations in polymerase gamma cause progressive external ...
Mutations in polymerase gamma cause progressive external ophthalmoplegia and a variety of associated symptoms and signs, including neuropathy, ataxia, hypogonadism, hearing loss, muscle weakness, and psychiatric problems. Extrapyramidal signs have been rarely described.

Polymerases:

Human Pol gamma Y831C

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