Peripheral neuropathy in mitochondrial disease

G. Pezeshkpour, C. Krarup, F. Buchthal, S. DiMauro, N. Bresolin, J. McBurney

Research output: Contribution to journalArticlepeer-review


Clinical, electrophysiological, histological and biochemical studies of two patients with mitochondrial disease revealed a moderately advanced axonal neuropathy with mitochondrial paracrystalline inclusions in Schwann cells, fibroblasts and muscle fibers. In addition there was a myopathy, and the activity of muscle cytochrome c oxidase was diminished by more than 50%. There were electrophysiological signs of myopathy, neuropathy and failure of excitation-contraction coupling in both patients. The partial enzyme deficiency raises some questions as to its pathogenetic role in these neuromyopathies.

Original languageEnglish
Pages (from-to)285-304
Number of pages20
JournalJournal of the Neurological Sciences
Issue number2-3
Publication statusPublished - 1987


  • Axonal atrophy
  • Axonal neuropathy
  • Cytochrome c oxidase deficiency
  • Excitation-contraction coupling
  • Myopathy
  • Schwann cell mitochondria

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Surgery
  • Neuroscience(all)
  • Developmental Neuroscience
  • Neurology


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