In addition to EBS‐MD, plectin mutations have been shown to cause EBS‐MD with myasthenic syndrome (EBS‐MD‐MyS), EBS with pyloric atresia (EBS‐PA), limb‐girdle muscular dystrophy type Q2 (LGMD2Q), and EBS‐Ogna [3]. Here, PLEC is linked to Menkes disease.