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Genealogical study of oculopharyngeal muscular dystrophy in France

✍ Scribed by G. Brunet; F.M.S. Tomé; B. Eymard; J.M. Robert; M. Fardeau

Book ID
117670627
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
367 KB
Volume
7
Category
Article
ISSN
0960-8966

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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