POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness
- 27 January 2004
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 62 (2) , 316-318
- https://doi.org/10.1212/wnl.62.2.316
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.Keywords
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