Condition: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
rs137852804
in
CHRNA1
gene and
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
PMID 15079006
2004 Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
PMID 12588888
2003 Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.
PMID 10195214
1999 Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating.