Slow segregation and rapid shift to homoplasmy coexist in a family with the T8993 > G mutation

J Inherit Metab Dis. 1999 Dec;22(8):939-40. doi: 10.1023/a:1005603926730.
No abstract available

Publication types

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

MeSH terms

  • Adenosine Triphosphatases / blood
  • Adenosine Triphosphatases / genetics*
  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • Infant
  • Leigh Disease / genetics*
  • Muscle, Skeletal / enzymology*

Substances

  • DNA, Mitochondrial
  • Adenosine Triphosphatases