Mitochondrial DNA sequence analysis in congenital myotonic dystrophy

Ann Neurol. 1991 Nov;30(5):724-7. doi: 10.1002/ana.410300514.


Mitochondrial genetic modifying factors have been suspected in several autosomally inherited diseases. The congenital variant of myotonic dystrophy, in which there is striking maternal inheritance pattern, is a likely candidate disease. To investigate this possibility, we sequenced completely the mitochondrial genome in 2 patients with congenital myotonic dystrophy. Comparison of the two sequences with control data failed to reveal a specific nucleotide variant or length variant in this disease. We conclude that a mitochondrial genetic modifying factor is not present in congenital myotonic dystrophy.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Blotting, Southern
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • Male
  • Myotonic Dystrophy / genetics*
  • Polymerase Chain Reaction


  • DNA, Mitochondrial