PABPN1 and oculopharyngeal muscular dystrophy: The autosomal recessive form of OPMD, which is caused by the homozygous expansion of (GCN)11 repeats in the PABPN1 gene, has been reported as late-onset and less severe than the dominant form [1], although it can manifest various symptoms with an unusual onset and atypical clinical course [36].