CUGBP1 is an RNA-binding protein whose abundance and/or localization is altered in several neuromuscular diseases, including myotonic dystrophy, Fragile X Tremor/Ataxia Syndrome (FXTAS) and Oculopharyngeal Muscular Dystrophy (OPMD). This evidence concerns the gene CELF1 and oculopharyngeal muscular dystrophy.