Congenital myasthenic syndrome with primary acetylcholine receptor deficiency

ORPHA:716816疾病亚型暂无中文名

别名

CMS with primary AChR deficiency、CMS with primary acetylcholine receptor deficiency、Primary AChR deficiency、Primary acetylcholine receptor deficiency

基因	名称	关联类型
CHRNA1	cholinergic receptor nicotinic alpha 1 subunit	Disease-causing germline mutation(s) in
CHRNB1	cholinergic receptor nicotinic beta 1 subunit	Disease-causing germline mutation(s) in
CHRND	cholinergic receptor nicotinic delta subunit	Disease-causing germline mutation(s) in
CHRNE	cholinergic receptor nicotinic epsilon subunit	Disease-causing germline mutation(s) in

发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号