PLEC and epidermolysis bullosa simplex: Nonetheless, it is noteworthy that PLEC, which encodes a large polypeptide acting as a crosslinker between actin microfilaments, microtubules, and intermediate filaments in the cell cytoskeleton39, has previously been associated with multiple autosomal recessive forms of muscular dystrophy, including epidermolysis bullosa simplex with muscular dystrophy, and muscular dystrophy, limb-girdle, autosomal recessive 1740–43.