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Mitochondrial abnormalities in oculopharyngeal muscular dystrophy

✍ Scribed by Dr.; MD Rachel Pauzner; MD Ilan Blatt; MD Meir Mouallem; Eitan Ben-David; MD Zvi Farfel; MD Menachem Sadeh


Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
815 KB
Volume
14
Category
Article
ISSN
0148-639X

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✦ Synopsis


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 mitochondria1 myopathy.


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