CLCN1 and myopathy: Given the initial suspicion of inherited metabolic myopathy, a genetic myopathy panel was collected using the NGS technique, which identified pathogenic variants on Gene NM_020376.4(PNPLA2):c.792del(p.Leu264fs) and NM_000083.3(CLCN1):c.1453A > G(p.Met485Val) genes supporting two different diagnosis: NLSD-M and Thomsen congenital myotonia.