title: [Mitochondrial myopathy: report of 12 cases with histochemical study of the skeletal muscle].
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 differential diagnosis of these patients are discussed.
authors.affiliation: Disciplina de Neurologia, Escola Paulista de Medicina, São Paulo, Brasil.
authors.forename: B H
authors.initials: BH
authors.lastname: Kiyomoto
authors.forename: A A
authors.initials: AA
authors.lastname: Gabbai
authors.forename: A S
authors.initials: AS
authors.lastname: Oliveira
authors.forename: B
authors.initials: B
authors.lastname: Schmidt
authors.forename: J G
authors.initials: JG
authors.lastname: Lima
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008931:Mitochondria, Muscle / Q000473:pathology*; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000378:metabolism / Q000473:pathology; D009460:Neurologic Examination
vernacular_title: Miopatia mitocondrial. Relato de 12 casos com estudo histoquímico do músculo esquelético.