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.
- mitochondrial myopathy
- muscular dystrophy
- oculopharyngeal muscular dystrophy