Mitochondrial abnormalities in oculopharyngeal muscular dystrophy.
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.
Pauzner
R
R
Department of Internal Medicine E, Chaim Sheba Medical Center, Tel Hashomer, Israel.
Blatt
I
I
Mouallem
M
M
Ben-David
E
E
Farfel
Z
Z
Sadeh
M
M
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*