title: Mitochondrial abnormalities in oculopharyngeal muscular dystrophy.
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.
authors.affiliation: Department of Internal Medicine E, Chaim Sheba Medical Center, Tel Hashomer, Israel.
authors.forename: R
authors.initials: R
authors.lastname: Pauzner
authors.forename: I
authors.initials: I
authors.lastname: Blatt
authors.forename: M
authors.initials: M
authors.lastname: Mouallem
authors.forename: E
authors.initials: E
authors.lastname: Ben-David
authors.forename: Z
authors.initials: Z
authors.lastname: Farfel
authors.forename: M
authors.initials: M
authors.lastname: Sadeh
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001763:Blepharoptosis / Q000209:etiology; D003680:Deglutition Disorders / Q000209:etiology; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000648:ultrastructure*; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D009801:Oculomotor Muscles / Q000473:pathology*; D010375:Pedigree; D010609:Pharyngeal Muscles / Q000473:pathology*