A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation

Am J Hum Genet. 1994 Jul;55(1):203-6.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • DNA, Mitochondrial / analysis
  • DNA, Mitochondrial / blood
  • DNA, Mitochondrial / genetics*
  • Electron Transport Complex I
  • Female
  • Germ-Line Mutation*
  • Humans
  • Lymphocytes / ultrastructure
  • Male
  • Mitochondria / physiology
  • Muscles / ultrastructure
  • Myocardium / ultrastructure
  • NADH, NADPH Oxidoreductases / genetics
  • Oculomotor Muscles / ultrastructure
  • Optic Atrophies, Hereditary / genetics*
  • Optic Nerve / ultrastructure
  • Pedigree
  • Point Mutation
  • Retina / ultrastructure
  • Sclera / ultrastructure
  • Tissue Distribution

Substances

  • DNA, Mitochondrial
  • NADH, NADPH Oxidoreductases
  • Electron Transport Complex I