Mitochondrial encephalomyopathy and partial cytochrome c oxidase deficiency.

TitleMitochondrial encephalomyopathy and partial cytochrome c oxidase deficiency.
Publication TypeJournal Article
Year of Publication1987
AuthorsServidei, S, Lazaro, RP, Bonilla, E, Barron, KD, Zeviani, M, DiMauro, S
Date Published1987 Jan
KeywordsAtrophy, Biopsy, Brain, Cytochrome-c Oxidase Deficiency, Histocytochemistry, Humans, Immunoenzyme Techniques, Male, Middle Aged, Mitochondria, Muscle, Muscular Diseases, Tomography, X-Ray Computed

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.

Alternate JournalNeurology
Citation Key10.1212/wnl.37.1.58
PubMed ID3025775
Grant ListNS-11766 / NS / NINDS NIH HHS / United States