Finally, 79% of patients in whom a LGMD was suspected obtained a genetic diagnosis with identified mutations in CAPN3, RYR1, CHRND, FKRP, TTN, DES, DYS, MYOT, TNPO3, PLEC and ANO5 genes (Supplementary Data). The gene discussed is TNPO3; the disease is limb-girdle muscular dystrophy.