Furthermore, the p.R697C (c.2089C > T) variant exclusive to ALS cases and the p.I684T (c.2051T > C) variant identified in LCCS1 and LAAHD cases were located at the hCG1-binding domain (Nousiainen et al., 2008; Kaneb et al., 2015). The gene discussed is GLE1; the disease is Lethal arthrogryposis - anterior horn cell disease.