Definition of Muscular dystrophy, oculopharyngeal

Reviewed on 3/29/2021

Muscular dystrophy, oculopharyngeal: A form of muscular dystrophy (MD) that begins in the muscles of the eyes and throat. It usually appears between the ages of 40 and 60, and it progresses slowly. Oculopharyngeal MD is inherited in an autosomal dominant manner and affects both males and females. One cause of oculopharyngeal MD is mutation in the PABP2 gene on chromosome 14, which encodes poly(A)-binding protein-2.

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