TGFB1 and congenital muscular dystrophy: While NFκB, JAK-STAT, p53, TGF-β, hypoxia, oxidative stress and PPAR signalling have been directly linked to laminin α2 chain-deficiency, or suggested to be involved in the disease9,10,29,32,33,36–38, the contribution of Wnt, hedgehog and Notch cascades to the LAMA2-CMD pathology has not been demonstrated.