In addition, plectin mutations have been shown to cause EBS-MD with a myasthenic syndrome (EBS-MD-MyS), EBS with pyloric atresia (EBS-PA, MIM #612138), limb-girdle muscular dystrophy (LGMDR17, MIM #613723), EBS with nail dystrophy (EBSND, MIM #616487), or the autosomal dominant variant EBS-Ogna (MIM #131950) [3,9]. The gene discussed is PLEC; the disease is Menkes disease.