| Literature DB >> 14745080 |
M Mancuso1, M Filosto, M Bellan, R Liguori, P Montagna, A Baruzzi, S DiMauro, V Carelli.
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.Entities:
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Year: 2004 PMID： 14745080 DOI： 10.1212/wnl.62.2.316
Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910