POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness

Neurology. 2004 Jan 27;62(2):316-8. doi: 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Amino Acid Substitution
  • Ataxia / genetics*
  • Cognition Disorders / genetics
  • DNA Mutational Analysis
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase / genetics*
  • Exons / genetics
  • Female
  • Genes, Recessive
  • Hearing Loss, Sensorineural / genetics*
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Mood Disorders / genetics
  • Mutation, Missense*
  • Ophthalmoplegia, Chronic Progressive External / genetics*
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Syndrome

Substances

  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase
  • POLG protein, human