This scenario is disrupted in myotonic dystrophies due to diminished functional levels of MBNL1 and upregulation of hyperphosphorylated CUGBP1, which is predominantly found in DM1 (Kuyumcu-Martinez et al. 2007; Wang GS and Cooper TA, 2007). This evidence concerns the gene MBNL1 and myotonic dystrophy type 1.