ColQ deficiency brings to a drastically decreased AChE localization at NMJs (Feng et al., 1999), causing congenital myasthenic syndrome with AChE deficiency (Donger et al., 1998; Ohno et al., 1998, 2013; Schreiner et al., 2007). The gene discussed is COLQ; the disease is hyperinsulinemic hypoglycemia, familial, 4.