OPA1 in multiple mitochondrial DNA deletion disorders

Neurology. 2008 Nov 25;71(22):1829-31. doi: 10.1212/01.wnl.0000335931.54095.0a.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Ataxia / genetics
  • Cytochrome-c Oxidase Deficiency / genetics*
  • Cytochrome-c Oxidase Deficiency / physiopathology
  • DNA, Mitochondrial*
  • Female
  • GTP Phosphohydrolases / genetics*
  • Gene Deletion*
  • Humans
  • Male
  • Middle Aged
  • Muscle, Skeletal / metabolism
  • Mutation
  • Ophthalmoplegia / genetics
  • Optic Atrophies, Hereditary / genetics*
  • Polymorphism, Single Nucleotide
  • Vision Disorders / genetics

Substances

  • DNA, Mitochondrial
  • GTP Phosphohydrolases
  • OPA1 protein, human