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- W2011314034 abstract "Six OPMD families (one of five generations) confirm that the disease is autosomal dominant; mapping on chromosome 14 has been described. There is obvious anticipation of the cardinal symptoms ptosis and dysphagia. Hutchinson face is a hallmark of chronic progressive external ophthalmoplegia (CPEO), the correct diagnosis of which relies on careful history-taking and histopathology of a girdle muscle showing the rimmed vacuoles and the specific intranuclear filaments. Diet, fluid food, and early swallowing training is advised, as is the easy, hardly invasive Guyton-Friedenwald surgery for ptosis, which is adaptable during the evolution of the disease." @default.
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- W2011314034 date "1997-01-01" @default.
- W2011314034 modified "2023-09-23" @default.
- W2011314034 title "Oculopharyngeal muscular dystrophy (OPMD)" @default.
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- W2011314034 doi "https://doi.org/10.3109/01658109709044665" @default.
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