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

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.

journal_name

Neurology

journal_title

Neurology

authors

Mancuso M,Filosto M,Bellan M,Liguori R,Montagna P,Baruzzi A,DiMauro S,Carelli V

doi

10.1212/wnl.62.2.316

subject

Has Abstract

pub_date

2004-01-27 00:00:00

pages

316-8

issue

2

eissn

0028-3878

issn

1526-632X

journal_volume

62

pub_type

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