POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 14745080.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Ataxia
- DNA-Directed DNA Polymerase
- Hearing Loss, Sensorineural
- Hereditary Sensory and Motor Neuropathy
- Mutation, Missense
- Ophthalmoplegia, Chronic Progressive External