[Mitochondrial oculopharyngeal myopathy: description of a case]

Riv Neurol. 1990 Sep-Oct;60(5):198-200.
[Article in Italian]

Abstract

We describe a 55 years old man affected by eyelid ptosis, mild ophthalmoplegia externa and severe dysphagia owing to pharyngoesophageal dyskinesia. Skeletal and eyelid constrictor muscles EMG showed myogenic alterations. Muscle histological findings of ragged red fibers and oxidative histochemical alterations, together with ultrastructural investigation clue for mitochondrial myopathy diagnosis. This, considering the unusual clinical aspects of the case, confirms as mitochondrial disease can widely vary in their phenotypical expression.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Blepharoptosis / pathology*
  • Humans
  • Male
  • Middle Aged
  • Mitochondria, Muscle / pathology*
  • Muscular Diseases / pathology*
  • Pharyngeal Diseases / pathology*