PLEC and epidermolysis bullosa simplex: Previous studies revealed defective expression of plectin in EBS-MD skin samples (Gache, et al., 1996; Shimizu, et al., 1999a; Shimizu, et al., 1999b) and mutations in PLEC in EBS-MD patients (McLean, et al., 1996; Pulkkinen, et al., 1996; Smith, et al., 1996; Takizawa, et al., 1999).