|Title||Mitochondrial encephalomyopathy and partial cytochrome c oxidase deficiency.|
|Publication Type||Journal Article|
|Year of Publication||1987|
|Authors||Servidei, S, Lazaro, RP, Bonilla, E, Barron, KD, Zeviani, M, DiMauro, S|
|Date Published||1987 Jan|
|Keywords||Atrophy, 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.
|Grant List||NS-11766 / NS / NINDS NIH HHS / United States|