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oculopharyngeal syndrome


Definition: a myopathic disorder with a slowly progressive blepharoptosis and dysphagia, beginning late in life; autosomal dominant inheritance, caused by mutation in the gene encoding poly(A)-binding protein-2 (PABP2) on chromosome 14q.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.