Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation

Am J Hum Genet. 1996 Mar;58(3):636-8.
No abstract available

Publication types

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

MeSH terms

  • Ataxia / genetics*
  • Child, Preschool
  • DNA, Mitochondrial / analysis
  • DNA, Mitochondrial / blood
  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Muscles / chemistry
  • Point Mutation

Substances

  • DNA, Mitochondrial