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 1B
             congenital myasthenic syndrome 1A
             congenital myasthenic syndrome 3B

          MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL; CMS1B
          MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; CMS1A
          MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A
          MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL; CMS3B
          MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFI

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