POGLUT1 is involved in the post-translational modification and function of Notch receptors and ligands by reducing O-glucosyltransferase activity on Notch, receptors and ligands and missense mutations in POGLUT1 were identified in a family with autosomal recessive limb-girdle muscular dystrophy (LGMD) (Table 2; Servián-Morilla et al., 2016). The gene discussed is POGLUT1; the disease is autosomal recessive limb-girdle muscular dystrophy.