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
Neurologyjournal_title
Neurologyauthors
Mancuso M,Filosto M,Bellan M,Liguori R,Montagna P,Baruzzi A,DiMauro S,Carelli Vdoi
10.1212/wnl.62.2.316subject
Has Abstractpub_date
2004-01-27 00:00:00pages
316-8issue
2eissn
0028-3878issn
1526-632Xjournal_volume
62pub_type
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