PMID 8755487 1996 Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit.
PMID 22592360 2012 Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site.
PMID 8755487 1996 Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit.