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.
- COX, cytochrome c oxidase
- CPEO, chronic progressive external ophthalmoplegia
- mtDNA, mitochondrial DNA
- mitochondrial myopathy
- chronic progressive external ophthalmoplegia
- dystrophic muscle
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Competing interests: none declared