Condition: MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
rs145955590
in
CHRND
gene and
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
PMID 16916845
2006 CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.
PMID 18398509
2008 Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.