Identification of a novel T398A mutation in the ND5 subunit of the mitochondrial complex I and of three novel mtDNA polymorphisms in two patients presenting ocular symptoms

Hum Mutat. 2000 Dec;16(6):532. doi: 10.1002/1098-1004(200012)16:6<532::AID-HUMU19>3.0.CO;2-P.
No abstract available

Publication types

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

MeSH terms

  • Alanine / genetics
  • Amino Acid Substitution / genetics*
  • DNA, Mitochondrial / genetics*
  • Electron Transport Complex I
  • Female
  • Humans
  • Mutation / genetics*
  • NADH, NADPH Oxidoreductases / genetics*
  • Optic Atrophies, Hereditary / enzymology*
  • Optic Atrophies, Hereditary / genetics*
  • Polymorphism, Genetic
  • Polymorphism, Single Nucleotide / genetics
  • Threonine / genetics

Substances

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