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oculopharyngeal muscular dystrophy
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PABPN1
Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA
The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression
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External
Natural History Study of Oculopharyngeal Muscular Dystrophy (NH-OPMD)