Condition: MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL
rs121909503
in
CHRND
gene and
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL
PMID 18398509
2008 Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.
PMID 12499478
2002 Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation.
PMID 11435464
2001 Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.