《英文msh词典》Dystrophies,Oculopharyngeal Muscular
[入口词] Dystrophies,Oculopharyngeal Muscular
[主题词] Muscular Dystrophy,Oculopharyngeal
[英文释义] An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular distrophy.