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

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.