Peripheral neuropathy in mitochondrial disease
| Autor: | C. Krarup, Salvatore DiMauro, Nereo Bresolin, Gholam H. Pezeshkpour, J. McBurney, F. Buchthal |
|---|---|
| Rok vydání: | 1987 |
| Předmět: |
Adult
Male Axonal neuropathy medicine.medical_specialty Cytochrome Mitochondrial disease Neural Conduction Muscular Diseases Internal medicine medicine Humans Cytochrome c oxidase Peripheral Nerves Neuromyopathies Myopathy biology Electromyography business.industry Muscles Peripheral Nervous System Diseases medicine.disease Mitochondria Mitochondria Muscle Electrophysiology Endocrinology Peripheral neuropathy Neurology biology.protein Neurology (clinical) medicine.symptom business |
| Zdroj: | Journal of the Neurological Sciences. 77:285-304 |
| ISSN: | 0022-510X |
| DOI: | 10.1016/0022-510x(87)90129-8 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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