Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name

Muscle Nerve. 1994 Jun;17(6):667-74. doi: 10.1002/mus.880170616.


This article describes a 37-year-old woman with progressive external ophthalmoplegia, peripheral neuropathy, and chronic intractable diarrhea. Laboratory studies disclosed lactic acidosis, ragged red fibers lacking cytochrome c oxidase, high-normal muscular mitochondrial enzymes, demyelinating neuropathy, leukoencephalopathy and multiple mitochondrial DNA deletions. This is the fourth patient described with this clinical syndrome, which represents a separate entity among multisystemic mitochondrial disorders. The patient described here is the first with this syndrome to have multiple mitochondrial DNA deletions.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • DNA, Mitochondrial / genetics
  • Demyelinating Diseases / complications
  • Female
  • Gastrointestinal Diseases / complications
  • Gene Deletion
  • Humans
  • Leukoencephalopathy, Progressive Multifocal / complications
  • Mitochondrial Encephalomyopathies / complications
  • Mitochondrial Encephalomyopathies / diagnosis
  • Mitochondrial Encephalomyopathies / genetics*
  • Muscular Diseases / complications
  • Ophthalmoplegia / complications
  • Terminology as Topic


  • DNA, Mitochondrial