Mitochondrial DNA deletion in oculoskeletal myopathy

Eur Neurol. 1991;31(3):160-3. doi: 10.1159/000116668.


The case of a patient showing bilateral ophthalmoplegia with proximal limb weakness, severe dysphagia and short stature, without family history, is described. The diagnosis of Kearns-Sayre syndrome was excluded because of the absence of pigmentary retinopathy and of all other common manifestations except short stature. The analysis of mitochondrial DNA of the patient's muscle revealed a deleted form accounting for 65% of the total mitochondrial DNA. The deletion, undetectable in the mitochondrial DNA of peripheral blood leukocytes, was apparently indistinguishable from that already described by others in a far more severe form of classic Kearns-Sayre syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Autoradiography
  • Blotting, Southern
  • Body Height
  • Chromosome Deletion
  • DNA, Mitochondrial / analysis*
  • Deglutition Disorders
  • Humans
  • Male
  • Ophthalmoplegia / genetics*
  • Syndrome


  • DNA, Mitochondrial