To date, no clear genotype-phenotype correlation has been established regarding the position of the variants in PLEC. Most cases of EBS with muscular dystrophy and EBS with pyloric atresia involve substitutions that lead to a premature stop codon (nonsense variants) or insertions/deletions that alter the reading phase (frameshift variants), in both cases resulting in reduction or complete absence of plectin expression.34 Here, PLEC is linked to muscular dystrophy.