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). The gene discussed is MBNL1; the disease is myotonic dystrophy.