[Mitochondrial anomalies in oculopharyngeal muscular dystrophy]

Rev Neurol (Paris). 1997 Jun;153(5):335-8.
[Article in French]

Abstract

Oculopharyngeal muscular dystrophy (OPMD) was described by Taylor in 1915. This autosomal dominant inheritance affection begins at the age of 40-50 years associating bilateral ptosis and dysphagia. In 1980, Tome and Fardeau described rimmed vacuoles and typical intranuclear tubulo-filamentous inclusions in the muscle biopsy. We report two cases (brother and sister) of clinical and histological OPMD with mitochondrial abnormalities (Ragged red fibers) associated with classical OPMD lesions. Those observation remind the question already vised since a long time by some authors, of the signification of mitochondrial abnormalities in OPMD.

Publication types

  • Case Reports
  • English Abstract
  • Review

MeSH terms

  • Female
  • Humans
  • Male
  • Microscopy, Electron
  • Middle Aged
  • Mitochondrial Myopathies / complications
  • Mitochondrial Myopathies / genetics*
  • Mitochondrial Myopathies / pathology
  • Muscular Dystrophies / complications
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Oculomotor Muscles*
  • Pharyngeal Muscles*