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Neurology. 2004 Jan 27;62(2):316-8.

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

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1
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.

Abstract

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.

PMID:
14745080
[Indexed for MEDLINE]
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