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Title: Miopatia mitocondrial relato de 12 casos com estudo histoquímico do músculo esquelético
Other Titles: Mitochondrial myopathy: report of 12 cases with histochemical study of skeletal muscle
Authors: Kiyomoto, Beatriz Hitomi [UNIFESP]
Gabbai, Alberto Alain [UNIFESP]
Oliveira, Acary Souza Bulle [UNIFESP]
Schmidt, Beny [UNIFESP]
Lima, J. G. C. [UNIFESP]
Universidade Federal de São Paulo (UNIFESP)
Issue Date: 1-Sep-1991
Publisher: Academia Brasileira de Neurologia - ABNEURO
Citation: Arquivos de Neuro-Psiquiatria. Academia Brasileira de Neurologia - ABNEURO, v. 49, n. 3, p. 272-278, 1991.
Abstract: Twelve patients with histologically defined mitochondrial myopathy are described. There were 9 males and 3 females. The age of onset ranged from birth to 35 years with a median of 14 years. The most common clinical picture was that of ophthalmoplegia, ptosis and muscle weakness found in 10 patients. One presented with exercise intolerance due to muscular aches and pains, and the other besides his muscular weakness had mental retardation and an aggressive behavior. The clinical presentation and differencial diagnosis of these patients are discussed.
São relatados 12 pacientes com o diagnóstico de MM definidos histoquimicamente. Nove pacientes eram do sexo masculino e três do sexo feminino. A idade de início dos sintomas variou desde o período neonatal até os 35 anos de idade (mediana 14 anos). Foram identificadas como características principais a fraqueza muscular, oftalmoplegia e ptose palpebral em 10 pacientes. Um paciente apresentou quadro de intolerância aos exercícios e outro além da fraqueza muscular, alteração do comportamento. São discutidos aspectos clínicos e o diagnóstico diferencial de nossos pacientes.
ISSN: 0004-282X
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