Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations

Neurology. 2009 Sep 15;73(11):898-900. doi: 10.1212/WNL.0b013e3181b78488.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Ataxia* / enzymology
  • Ataxia* / genetics
  • Child
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase / genetics*
  • Female
  • Hereditary Sensory and Autonomic Neuropathies* / enzymology
  • Hereditary Sensory and Autonomic Neuropathies* / genetics
  • Humans
  • Male
  • Mutation*
  • Ophthalmoplegia* / enzymology
  • Ophthalmoplegia* / genetics
  • Phenotype
  • Young Adult

Substances

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