GCG Repeats and phenotype in oculopharyngeal muscular dystrophy
✍ Scribed by Tobias Müller; Rolf Schröder; Stephan Zierz
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 103 KB
- Volume
- 24
- 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
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