Deletion of Mitochondrial DNA in a Case of Early-Onset Diabetes Mellitus, Optic Atrophy and Deafness (DIDMOAD, Wolfram Syndrome)

J Inherit Metab Dis. 1993;16(3):527-30. doi: 10.1007/BF00711672.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Blotting, Southern
  • DNA Probes
  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • Infant
  • Lactates / metabolism
  • Mitochondria, Muscle / genetics
  • Mitochondria, Muscle / metabolism
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Pyruvates / metabolism
  • Sequence Deletion*
  • Wolfram Syndrome / genetics*
  • Wolfram Syndrome / metabolism

Substances

  • DNA Probes
  • DNA, Mitochondrial
  • Lactates
  • Pyruvates