Lipoamide dehydrogenase deficiency in Ashkenazi Jews: an insertion mutation in the mitochondrial leader sequence

Hum Mutat. 1997;10(3):256-7. doi: 10.1002/(SICI)1098-1004(1997)10:3<256::AID-HUMU16>3.0.CO;2-Z.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Child, Preschool
  • DNA, Mitochondrial / genetics
  • DNA, Mitochondrial / isolation & purification
  • Dihydrolipoamide Dehydrogenase / deficiency*
  • Dihydrolipoamide Dehydrogenase / genetics*
  • Humans
  • Jews / genetics*
  • Male
  • Mitochondria / enzymology*
  • Mitochondria / genetics*
  • Mutation*
  • Protein Sorting Signals / genetics*

Substances

  • DNA, Mitochondrial
  • Protein Sorting Signals
  • Dihydrolipoamide Dehydrogenase