Article

Guanabenz treatment improves Oculopharyngeal muscular dystrophy phenotype

2018-07-24

Abstract excerpt

Oculopharyngeal muscular dystrophy (OPMD) is a rare late onset genetic disease affecting most profoundly eyelid and pharyngeal muscles, leading respectively to ptosis and dysphagia, and proximal limb muscles at later stages. A short abnormal (GCG) triplet expansion in the polyA– binding protein nuclear 1 (PABPN1) gene leads to PABPN1-containing aggregates in the muscles of OPMD patients. It is commonly accepted th...

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Literature Corpus work: 4ca24c5a-9787-57e7-ba1d-7de10d267021
DOI: 10.1101/375758

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