Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy

Hum Mutat. 1996;7(2):158-63. doi: 10.1002/(SICI)1098-1004(1996)7:2<158::AID-HUMU12>3.0.CO;2-1.
No abstract available

Publication types

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

MeSH terms

  • Base Sequence
  • Child, Preschool
  • DNA, Mitochondrial / genetics*
  • Electron Transport Complex IV / metabolism
  • Evolution, Molecular
  • Female
  • Humans
  • Mitochondria, Muscle / ultrastructure
  • Mitochondrial Encephalomyopathies / enzymology
  • Mitochondrial Encephalomyopathies / genetics*
  • Mitochondrial Encephalomyopathies / pathology
  • Molecular Sequence Data
  • Muscle Fibers, Skeletal / enzymology
  • Muscle Fibers, Skeletal / pathology
  • Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single-Stranded Conformational
  • RNA, Transfer, Cys / chemistry
  • RNA, Transfer, Cys / genetics*
  • Succinate Dehydrogenase / metabolism

Substances

  • DNA, Mitochondrial
  • RNA, Transfer, Cys
  • Succinate Dehydrogenase
  • Electron Transport Complex IV