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

dc.contributorUniversidade Federal de São Paulo (UNIFESP)
dc.creatorKiyomoto, Beatriz Hitomi [UNIFESP]
dc.creatorTengan, Celia Harumi [UNIFESP]
dc.creatorCosta, C. K. [UNIFESP]
dc.creatorOliveira, A. S. [UNIFESP]
dc.creatorSchmidt, B.
dc.creatorGabbai, Alberto Alain [UNIFESP]
dc.date.accessioned2016-01-24T12:41:06Z
dc.date.accessioned2022-10-07T21:08:02Z
dc.date.available2016-01-24T12:41:06Z
dc.date.available2022-10-07T21:08:02Z
dc.date.created2016-01-24T12:41:06Z
dc.date.issued2006-04-01
dc.identifierJournal of Neurology Neurosurgery and Psychiatry. London: B M J Publishing Group, v. 77, n. 4, p. 541-543, 2006.
dc.identifier0022-3050
dc.identifierhttp://repositorio.unifesp.br/handle/11600/28840
dc.identifier10.1136/jnnp.2005.079954
dc.identifierWOS:000236701400030
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/4027022
dc.description.abstractBackground: 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.
dc.languageeng
dc.publisherB M J Publishing Group
dc.relationJournal of Neurology Neurosurgery and Psychiatry
dc.rightsAcesso restrito
dc.titleFrequency of dystrophic muscle abnormalities in chronic progressive external ophthalmoplegia: analysis of 86 patients
dc.typeArtigo


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