Mutations in the human plectin gene may result in autosomal recessive EBS-MD, EBS-MD with myasthenic features (EBS-MD-MyS), EBS with pyloric atresia (EBS-PA) limb girdle muscular dystrophy type 2Q (LGMD2Q), skin-only EBS [216] and the autosomal dominant variant EBS-Ogna [207,217]. Here, PLEC is linked to Menkes disease.