Mitochondrial encephalomyopathy and partial cytochrome c oxidase deficiency

S. Servidei, R. P. Lazaro, E. Bonilla, K. D. Barron, M. Zeviani, S. DiMauro

Research output: Contribution to journalArticlepeer-review

Abstract

A 52-year-old man had slowly progressive weakness and wasting of limb-muscles, sensorineural hearing loss, and complex partial seizures. CT showed cerebral atrophy, but he was not demented. Muscle biopsy showed ragged-red fibers and decreased histochemical stain for cytochrome c oxidase. Biochemical studies showed decreased cytochrome c oxidase activity in crude muscle extracts and in isolated mitochondria (44 and 30% of normal), while other mitochondrial enzymes were normal. A comparable decrease of immunologically reactive enzyme protein was shown by immunotitration with antibodies against human heart cytochrome c oxidase. Partial defects of cytochrome c oxidase may cause adult-onset, slowly progressive mitochondrial encephalomyopathies.

Original languageEnglish
Pages (from-to)58-63
Number of pages6
JournalNeurology
Volume37
Issue number1
Publication statusPublished - 1987

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • Neuroscience(all)

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