Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene

J Med Genet. 2004 Jun;41(6):e75. doi: 10.1136/jmg.2003.015024.
No abstract available

Publication types

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

MeSH terms

  • Adenosine Triphosphatases / metabolism
  • Adolescent
  • Adult
  • Age of Onset
  • Codon, Nonsense*
  • DNA, Mitochondrial / genetics*
  • Electron Transport Complex IV / genetics*
  • Electron Transport Complex IV / metabolism
  • Follow-Up Studies
  • Humans
  • Immunohistochemistry
  • Male
  • Mitochondrial Myopathies / enzymology
  • Mitochondrial Myopathies / genetics*
  • Mitochondrial Myopathies / pathology
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Polymorphism, Restriction Fragment Length
  • Recovery of Function
  • Remission, Spontaneous

Substances

  • Codon, Nonsense
  • DNA, Mitochondrial
  • Electron Transport Complex IV
  • Adenosine Triphosphatases