PLEC and autosomal recessive limb-girdle muscular dystrophy type 2Q: Mutations in the gene encoding plectin,PLEC, result in “plectinopathies”, including cutaneous or extracutaneous features: EB simplex with muscular dystrophy (MIM 226670), EB simplex with pyloric atresia (MIM 612138), EB simplex Ogna (MIM 131950), and muscular dystrophy, limb-girdle, type 2Q (MIM 613723).