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Frequency of dystrophic muscle abnormalities in chronic progressive external ophthalmoplegia: analysis of 86 patients
  1. B H Kiyomoto1,
  2. C H Tengan1,
  3. C K Costa1,
  4. A S Oliveira1,
  5. B Schmidt2,
  6. A A Gabbai1
  1. 1Department of Neurology, Universidade Federal de São Paulo, Escola Paulista de Medicina, São Paulo, Brazil
  2. 2Department of Pathology, Universidade Federal de São Paulo
  1. 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}


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

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