Frequency of dystrophic muscle abnormalities in chronic progressive external ophthalmoplegia: analysis of 86 patients

Frequency of dystrophic muscle abnormalities in chronic progressive external ophthalmoplegia: analysis of 86 patients

Autor Kiyomoto, Beatriz Hitomi Autor UNIFESP Google Scholar
Tengan, Celia Harumi Autor UNIFESP Google Scholar
Costa, C. K. Autor UNIFESP Google Scholar
Oliveira, A. S. Autor UNIFESP Google Scholar
Schmidt, B. Google Scholar
Gabbai, Alberto Alain Autor UNIFESP Google Scholar
Instituição Universidade Federal de São Paulo (UNIFESP)
Resumo Background: There are few reports describing the coexistence of dystrophic features with those typical of mitochondrial myopathies in muscle biopsy. A recent study suggested that dystrophic features are frequent in patients with chronic progressive external ophthalmoplegia ( CPEO) with a high mutation load, but the actual frequency of these abnormalities in CPEO remains undetermined.Objective: To review the occurrence of dystrophic abnormalities in a large series of patients with CPEO to assess the frequency of such abnormalities and to verify whether they are correlated with specific mitochondrial DNA ( mtDNA) mutations.Methods: Retrospective survey of case series ( 86 patients with CPEO).Results: Only three cases with dystrophic abnormalities were found: two with a large scale mtDNA deletion and one with the A3251G mutation. All three patients showed predominantly proximal muscular weakness resembling limb girdle muscular dystrophy.Conclusions: Dystrophic abnormalities are rare in CPEO and are not correlated with a specific molecular defect.
Idioma Inglês
Data de publicação 2006-04-01
Publicado em Journal of Neurology Neurosurgery and Psychiatry. London: B M J Publishing Group, v. 77, n. 4, p. 541-543, 2006.
ISSN 0022-3050 (Sherpa/Romeo, fator de impacto)
Publicador B M J Publishing Group
Extensão 541-543
Fonte http://dx.doi.org/10.1136/jnnp.2005.079954
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000236701400030
Endereço permanente http://repositorio.unifesp.br/handle/11600/28840

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