Moreover, PLEC mutations can cause EBS-MD associated with a myasthenic syndrome (EBS-MD-MyS), EBS with pyloric atresia (EBS-PA), EBS-Ogna, or limb-girdle muscular dystrophy type 2Q (LGMD2Q). This evidence concerns the gene PLEC and autosomal recessive limb-girdle muscular dystrophy type 2Q.