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  • Title: Oculopharyngeal muscular dystrophy in France.
    Author: Fardeau M, Tomé FM.
    Journal: Neuromuscul Disord; 1997 Oct; 7 Suppl 1():S30-3. PubMed ID: 9392012.
    Abstract:
    The clinical, histopathological, ultrastructural and geographical data on 29 cases of oculopharyngeal muscular dystrophy (OPMD) identified by the authors in France is briefly presented. The mean age of the patients was 53.8 +/- 8.1 years. Onset symptoms were ptosis (14/29), dysphagia (12/29) and limb girdle weakness (3/29). The evolution of the disease was always progressive and followed different clinical patterns. The main histological changes in muscle biopsies were atrophic angulated fibers (29/29) and rimmed vacuoles (25/29); muscle fiber necrosis was very rare (1/29). The characteristic nuclear inclusions made of 8.5-nm filaments were observed in all cases, and found in 2-5% of the nuclei in a given ultrathin section. They are the morphological marker of the disease.
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