Artigo Acesso aberto Produção Nacional Revisado por pares

Miopatia mitocondrial relato de 12 casos com estudo histoquímico do músculo esquelético

1991; Thieme Medical Publishers (Germany); Volume: 49; Issue: 3 Linguagem: Inglês

10.1590/s0004-282x1991000300007

ISSN

1678-4227

Autores

Beatriz Hitomi Kiyomoto, Alberto Alain Gabbai, Acary Souza Bullé Oliveira, Beny Schmidt, José Geraldo Camargo Lima,

Tópico(s)

Neurological diseases and metabolism

Resumo

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.

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