Table 1 summarizes the main clinical and genetic features of our cohort (Bonne et al., 2000a; Quijano-roy et al., 2008; Chemla et al., 2010; Komaki et al., 2011; Pasqualin et al., 2014; Heller et al., 2017; Fan et al., 2020). The median age at last follow-up was 13 years (IQR of 8–17 years). All participants met clinical criteria and had confirmed LMNA-related neuromuscular disease. 13 (46.43%) had EDMD, 11 had L-CMD (39.28%), 2 (7.14%) had LGMD1B, and 2 (7.14%) had an LMNA-related atypical phenotype with mild weakness (Supplementary Figure S1). Here, LMNA is linked to Emery-Dreifuss muscular dystrophy.