Mitochondrial abnormalities in oculopharyngeal muscular dystrophy
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R Pauzner1, I Blatt, M Mouallem
1Department of Internal Medicine E, Chaim Sheba Medical Center, Tel Hashomer, Israel.
Muscle & Nerve
|October 1, 1991
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.