Mitochondrial abnormalities in oculopharyngeal muscular dystrophy

Rachel Pauzner, Ilan Blatt, Meir Mouallem, Eitan Ben‐David, Zvi Farfel, Menachem Sadeh

Research output: Contribution to journalArticlepeer-review

Abstract

A family with oculopharyngeal muscular dystrophy (OPMD) is described. Histological and histochemical studies of muscle biopsy showed nonspecific myopathic changes; no “ragged‐red” fibers were seen. Electron microscopy demonstrated bizarre large mitochondria with abnormal cristae, but no intranuclear inclusion bodies. Our findings are compatible with the possibility that OPMD is a heterogeneous syndrome, and may be a manifestation of mitochondrial myopathy.

Original languageEnglish
Pages (from-to)947-952
Number of pages6
JournalMuscle and Nerve
Volume14
Issue number10
DOIs
StatePublished - Oct 1991

Keywords

  • mitochondrial myopathy
  • muscular dystrophy
  • oculomyopathy
  • oculopharyngeal muscular dystrophy

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