Peripheral neuropathy in mitochondrial disease.
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.
D000328:Adult; D004576:Electromyography; D006801:Humans; D008297:Male; D008928:Mitochondria; D008931:Mitochondria, Muscle / Q000378:metabolism; D009132:Muscles / Q000473:pathology / Q000503:physiopathology; D009135:Muscular Diseases / Q000175:diagnosis* / Q000473:pathology; D009431:Neural Conduction; D010525:Peripheral Nerves / Q000473:pathology; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis* / Q000473:pathology