Among these, the LAMA2 variant c.2461A>C (p.Thr821Pro; in homozygosity or compound heterozygosity with loss-of-function variants) has now been described in several patients with milder EDMD or LGMD-like clinical presentations (Marques et al., 2014; Nelson et al., 2015), as well as in patients with mild, atypical forms of LAMA2-RD with predominant CNS involvement (Marques et al., 2014; Nelson et al., 2015; Oliveira et al., 2018). The gene discussed is LAMA2; the disease is Emery-Dreifuss muscular dystrophy.