Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation

Neurology. 2009 Feb 10;72(6):568-9. doi: 10.1212/01.wnl.0000342121.91336.4d.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • DNA, Mitochondrial / genetics*
  • DNA, Mitochondrial / urine*
  • Female
  • Genetic Predisposition to Disease / genetics
  • Genetic Testing / methods*
  • Humans
  • Male
  • Middle Aged
  • Mitochondrial Diseases / diagnosis*
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Diseases / urine
  • Mutation
  • Outcome Assessment, Health Care / methods*
  • Prognosis
  • RNA Precursors / genetics*
  • RNA, Transfer, Leu / genetics*
  • Reproducibility of Results
  • Sensitivity and Specificity

Substances

  • DNA, Mitochondrial
  • RNA Precursors
  • RNA, Transfer, Leu
  • pre-tRNA(Leu)