Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies

Ann Neurol. 1990 Jul;28(1):94-7. doi: 10.1002/ana.410280118.


By using a combination of Southern blot hybridization analysis, polymerase-chain reaction amplification, and direct nucleotide sequencing, we studied deletions of mitochondrial DNA (mtDNA) in several nonfamilial patients with progressive external ophthalmoplegia and Kearns-Sayre syndrome, and in some of their direct relatives. Results suggest that the heteroplasmic mtDNA populations are already present at a very early stage of development, and that there is no direct transmission of mtDNA heteroplasmy by maternal inheritance.

MeSH terms

  • Base Sequence
  • Blotting, Southern
  • DNA, Mitochondrial / analysis*
  • Humans
  • Kearns-Sayre Syndrome / genetics
  • Molecular Sequence Data
  • Ophthalmoplegia / genetics*
  • Polymerase Chain Reaction
  • Tissue Distribution


  • DNA, Mitochondrial