A variable neurodegenerative phenotype with polymerase gamma mutation

J Neurol Neurosurg Psychiatry. 2009 Oct;80(10):1181-2. doi: 10.1136/jnnp.2008.166066.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase / genetics*
  • Female
  • Humans
  • Male
  • Mutation / genetics*
  • Neurodegenerative Diseases / genetics*
  • Neurodegenerative Diseases / pathology
  • Neurodegenerative Diseases / psychology
  • Pedigree
  • Phenotype
  • Young Adult

Substances

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