Dystonia in mitochondrial spinocerebellar ataxia and epilepsy syndrome associated with novel recessive POLG mutations

Mov Disord. 2012 Jan;27(1):162-3. doi: 10.1002/mds.23960. Epub 2011 Sep 28.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Brain / pathology
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase / genetics*
  • Dystonia* / complications
  • Dystonia* / genetics
  • Dystonia* / pathology
  • Epilepsy* / complications
  • Epilepsy* / genetics
  • Epilepsy* / pathology
  • Female
  • Humans
  • Longitudinal Studies
  • Magnetic Resonance Imaging
  • Mitochondria / pathology*
  • Mutation / genetics*
  • Spinocerebellar Ataxias* / complications
  • Spinocerebellar Ataxias* / genetics
  • Spinocerebellar Ataxias* / pathology
  • Young Adult

Substances

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