POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.

Mancuso M, Filosto M, Bellan M, Liguori R, Montagna P, Baruzzi A, DiMauro S, Carelli V
Neurology (2004), Volume 62, Page 316
PubMed entry

Abstract:

The authors identified two novel heterozygous missense transitions in ...
The authors identified two novel heterozygous missense transitions in the gene for the mitochondrial polymerase gammaA subunit (POLG) in a family with an autosomal recessive syndrome comprising progressive external ophthalmoplegia (PEO), polyneuropathy, ataxia, sensorineural hearing loss, and affective disorders. These mutations were not detected in 120 healthy control subjects.

Polymerases:

Human Pol gamma H932Y,Human Pol gamma G1051R

Topics:

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