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

¹ Department of Neurology, Universidade Federal de São Paulo, Escola Paulista de Medicina, São Paulo, Brazil
² Department of Pathology, Universidade Federal de São Paulo

Correspondence to:
Correspondence to:
Dr Beatriz H Kiyomoto
Universidade Federal de São Paulo, Escola Paulista de Medicina, Department of Neurology, Rua Pedro de Toledo 781, sétimo andar, 04039-032 São Paulo, Brazil; beatriz-neuro{at}pesquisa.epm.br

ABSTRACT
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.

Abbreviations: COX, cytochrome c oxidase; CPEO, chronic progressive external ophthalmoplegia; mtDNA, mitochondrial DNA

Keywords: mitochondrial myopathy; chronic progressive external ophthalmoplegia; dystrophic muscle