In the case of oculopharyngeal muscular dystrophy (OPMD), which is caused by trinucleotide repeat expansion in the poly A-binding protein nuclear 1 (PABPN1) gene, patients suffer from late onset of ptosis, swallowing difficulties, and formation of nuclear aggregates in skeletal muscles [239]. The gene discussed is PABPN1; the disease is oculopharyngeal muscular dystrophy.