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Nuclear inclusions in oculopharyngeal muscular dystrophy

✍ Scribed by Dr. Jean-Jacques R. Martin; Chantal M. Ceuterick; Rudolf J. Mercelis


Publisher
John Wiley and Sons
Year
1982
Tongue
English
Weight
544 KB
Volume
5
Category
Article
ISSN
0148-639X

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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 intranuclea

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Oculopharyngeal muscular dystrophy (OPMD) is a late adult onset, autosomal dominant muscular dystrophy characterized by ptosis and dysphagia. The OPMD gene has been localized to chromosome 14q11.2-q13 in French-Canadian pedigrees. We report 2 non-French-Canadian families with OPMD. Affected ancestor