After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.

After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. [-]

             congenital myasthenic syndrome 1A
             congenital myasthenic syndrome 4B
             congenital myasthenic syndrome 4A
             congenital myasthenic syndrome 4C

          MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; CMS1A
          MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFI
          MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL; CMS4A
          MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL; CMS4B

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD