PABPN1 and oculopharyngeal muscular dystrophy: In 2005, Robinson and colleagues were the first to report that OPMD was caused by a c.35G > C point mutation in the PABPN1 gene, which resulted in p.Gly12Ala amino acid substitution and an increase in the number of contiguous polyalanine codons mimicking the PABPN1 triplet repeat effect [8].