Mitochondrial myopathy and myoclonic epilepsy
| Autor: | Walter O. Arruda, Luiz F. B. Torres, Anne lombes, Salvatore Dimauro, Belkiss A. Cardoso, Hélio A. G. Teive, Duilton de Paola, Ricardo R. Seixas |
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| Jazyk: | angličtina |
| Rok vydání: | 1990 |
| Předmět: | |
| Zdroj: | Arquivos de Neuro-Psiquiatria, Vol 48, Iss 1, Pp 32-43 (1990) |
| Druh dokumentu: | article |
| ISSN: | 1678-4227 0004-282X 16662253 |
| DOI: | 10.1590/S0004-282X1990000100006 |
| Popis: | The authors describe a family (mother, son and two daughters) with mitochondrial myopathy. The mother was asymptomatic. Two daughters had lactic acidosis and myoclonic epilepsy, mild dementia, ataxia, weakness and sensory neuropathy. The son suffered one acute hemiplegic episode due to an ischemic infarct in the right temporal region. All the patients studied had hypertension. EEG disclosed photomyoclonic response in the proband patient. Muscle biopsy disclosed ragged-red fibers and abnormal mitochondria by electron microscopy. Biochemical analysis showed a defect of cytochrome C oxidase in mitochondria isolated from skeletal muscle. Several clinical and genetic aspects of the mitochondrial encephalomyopathies are discussed. |
| Databáze: | Directory of Open Access Journals |
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