Pathogenic variants in the PLEC gene were mainly foundin exons 31 and 32, loss-of-function variants leading to moresevere phenotypes such as EBS with pyloric atresia (EBS-AP)and, as a result of null variants of the PLEC gene, EBS withmuscular dystrophy (EBS-MD), where skeletal muscle fiberslose their structural integrity due to defects in desmin filaments(Natsuga, 2015). Here, PLEC is linked to Menkes disease.