De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome

Am J Hum Genet. 1998 Mar;62(3):717-9. doi: 10.1086/301751.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • DNA, Mitochondrial / genetics*
  • Humans
  • Infant
  • Leigh Disease / genetics*
  • Male
  • Microscopy, Electron
  • Mitochondria, Muscle / ultrastructure
  • Point Mutation*
  • Polymerase Chain Reaction

Substances

  • DNA, Mitochondrial