Modest expansion of a polyalanine repeat tract in PABPN1, which also encodes an RBP, underlies the majority of cases of oculopharyngeal muscular dystrophy (OPMD), a late-onset (typically 5th decade) disease characterized by ptosis and dysphagia, and in rare cases progressive limb weakness and later stage vertical ophthalmoparesis29. The gene discussed is PABPN1; the disease is oculopharyngeal muscular dystrophy.