Restriction enzyme analysis of the mitochondrial genome in mitochondrial myopathy

J Med Genet. 1988 Sep;25(9):600-5. doi: 10.1136/jmg.25.9.600.


The mitochondrial myopathies are a heterogeneous group of disorders some of which may be caused by mutations in the mitochondrial genome. Mitochondrial DNA from 10 patients with mitochondrial myopathy and their mothers was analysed using five restriction enzymes and 11 mitochondrial probes in bacteriophage M13. No abnormalities were found in seven out of the 10 patients. Polymorphisms which have not previously been reported were detected in three patients and two of their mothers. These results exclude the presence of deletions or insertions of greater than 60 bp in the region of the mitochondrial genome examined. Any causative mitochondrial DNA mutations in these disorders are therefore likely to be point mutations or small structural rearrangements.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA, Mitochondrial / genetics*
  • Female
  • Genes
  • Humans
  • Male
  • Mitochondria, Muscle / metabolism
  • Muscular Diseases / genetics*
  • Pedigree
  • Polymorphism, Restriction Fragment Length


  • DNA, Mitochondrial