Genes associated with channelopathies (SCN4A, CACNA1S, KCNJ2, CLCN1) or congenital myasthenic syndrome and related disorders (CHRNA1, CHRNB1, CHRND, CHRNE, RAPSN, CHAT, MUSK, COLQ, DOK7, AGRN, GFPT1, DPAGT1, LAMB2, CHRNG, PLEC) were specifically checked. The gene discussed is COLQ; the disease is Congenital myasthenic syndromes.