Condition: MYASTHENIC SYNDROME, CONGENITAL, 16
rs121908553
in
SCN4A
gene and
MYASTHENIC SYNDROME, CONGENITAL, 16
PMID 26659129
2016 A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.
PMID 12766226
2003 Myasthenic syndrome caused by mutation of the SCN4A sodium channel.
PMID 25707578
2015 Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome.