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POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness
- Source :
- Europe PubMed Central, Scopus-Elsevier
- Publication Year :
- 2004
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2004.
-
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.
- Subjects :
- Adult
Male
Heterozygote
Ophthalmoplegia, Chronic Progressive External
Pathology
medicine.medical_specialty
Ataxia
Hearing loss
Hearing Loss, Sensorineural
DNA Mutational Analysis
Mutation, Missense
Genes, Recessive
DNA-Directed DNA Polymerase
Neurological disorder
Central nervous system disease
medicine
Humans
Missense mutation
Mood Disorders
business.industry
External ophthalmoplegia
Exons
Syndrome
Middle Aged
medicine.disease
DNA Polymerase gamma
Pedigree
Amino Acid Substitution
Female
Sensorineural hearing loss
Neurology (clinical)
medicine.symptom
Cognition Disorders
Hereditary Sensory and Motor Neuropathy
business
Neuroscience
Polyneuropathy
Polymorphism, Restriction Fragment Length
Subjects
Details
- ISSN :
- 1526632X and 00283878
- Volume :
- 62
- Database :
- OpenAIRE
- Journal :
- Neurology
- Accession number :
- edsair.doi.dedup.....6185c192d564f84cb5e0bea48c8f8b94