Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G > C; p.Gly12Ala point mutation

Abstract Oculopharyngeal muscular dystrophy is a neuromuscular disease usually presenting in the 5th or 6th decades of life with a dominant inheritance pattern. In almost all cases the cause of the disease is the expansion of a DNA repeat sequence containing GCG and GCA codons in exon 1 of the PABPN...

Ausführliche Beschreibung