Selcen et al., Neurology 2011
(Epidermolysis Bullosa Simplex...) :
Defects in plectin cause epidermolysis bullosa simplex ( EBS ) , muscular dystrophy ( MD ), and sometimes pyloric atresia
McLean et al., Genes Dev 1996
(Epidermolysis Bullosa...) :
Loss of plectin causes epidermolysis bullosa with muscular dystrophy : cDNA cloning and genomic organization