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Mitochondrial myopathy and myoclonic epilepsy
Arquivos de Neuro-Psiquiatria
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 abnormaldoi:10.1590/s0004-282x1990000100006 pmid:2165773 fatcat:k4pj7naqwvdidcuejvwppoudhe