NARP mitochondriopathy: an unusual cause of progressive myoclonic epilepsy

Neurology. 2007 Apr 24;68(17):1429-30. doi: 10.1212/01.wnl.0000264019.53959.10.
No abstract available

MeSH terms

  • DNA, Mitochondrial / genetics
  • Electroencephalography
  • Electroretinography
  • Female
  • Gait Ataxia / etiology
  • Humans
  • Middle Aged
  • Mitochondrial Encephalomyopathies / classification
  • Mitochondrial Encephalomyopathies / complications*
  • Mitochondrial Encephalomyopathies / genetics
  • Mitochondrial Proton-Translocating ATPases / genetics*
  • Mutation, Missense
  • Myoclonic Epilepsies, Progressive / genetics*
  • Organ Specificity
  • Phenotype
  • Photic Stimulation
  • Point Mutation

Substances

  • DNA, Mitochondrial
  • MT-ATP6 protein, human
  • Mitochondrial Proton-Translocating ATPases