Autosomal dominant (and more rarely homozygous recessive) nucleotide-repeat expansion mutations in PABPN1, encoding polyadenylate-binding nuclear protein 1, are linked to oculopharyngeal muscular dystrophy (OPMD), a late-onset muscular dystrophy subtype. The gene discussed is PABPN1; the disease is oculopharyngeal muscular dystrophy.