While plectin immunoblot analysis of normal human skeletal muscle usually displays two bands, a very strong band corresponding to the ~500 kDa full-length protein and a faint signal at 390 kDa, corresponding to the rodless plectin variant, lacking the central, exon 31-encoded rod domain [72], immunoblotting analyses of EBS-MD patient-derived muscle samples reveal either the complete absence of plectin, a marked reduction in signal intensities of both bands, or the sole detection of rodless plectin [23,24,48]. Here, PLEC is linked to Menkes disease.