PLEC and Menkes disease: Among them, mutations in the gene encoding plectin, PLEC (MIM# 601282), have been known to be causal for two subtypes of autosomal recessive EBS (EBS with muscular dystrophy (EBS-MD) and EBS with pyloric atresia (EBS-PA)) and for one subtype of autosomal dominant EBS (EBS-Ogna) (Fine, et al., 2008).