Mutations in PLEC, a human plectin gene, cause severe malformations, known as plectinopathies, which include several types of epidermolysis bullosa simplex (EBS): EBS with muscular dystrophy (EBS-MD), EBS with a myasthenic syndrome (EBS-MD-MyS), EBS with pyloric atresia (EBS-PA), EBS-Ogna, EBS with nail dystrophy (EBSND), and limb-girdle muscular dystrophy (LGMDR17). Here, PLEC is linked to Menkes disease.