Multiple sclerosis and mitochondrial myopathy: an unusual combination of diseases

J Neurol. 1994 Jul;241(8):511-6. doi: 10.1007/BF00919714.


A woman with definite multiple sclerosis (MS) and mitochondrial myopathy is described. There were widespread white matter lesions on magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) abnormalities and evoked response changes. Muscle biopsy showed ragged red fibres (RRFs) and cytochrome c oxidase (CoX) deficiency. Southern blot analysis revealed a large deletion of mitochondrial DNA (mtDNA). The patient may be affected by two unrelated diseases, MS and mitochondrial myopathy, but this combination has never previously been reported.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biopsy
  • Blotting, Southern
  • DNA, Mitochondrial / genetics
  • Female
  • Gene Deletion
  • Humans
  • Magnetic Resonance Imaging
  • Middle Aged
  • Mitochondrial Myopathies / complications*
  • Mitochondrial Myopathies / diagnosis
  • Multiple Sclerosis / complications*
  • Multiple Sclerosis / diagnosis
  • Muscle, Skeletal / pathology


  • DNA, Mitochondrial