congenital myasthenic syndrome 6 ^{الإنجليزية} (Q3659943)

Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner. ^{الإنجليزية}

اللغة	التسمية	الوصف	أسماء أخرى
العربية	لم تُضف التسمية	لا يوجد وصف
الإنجليزية	congenital myasthenic syndrome 6	Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner.	familial infantile myasthenia CMS6 congenital myasthenic syndrome 6, presynaptic congenital myasthenic syndrome type Ia2 FIMG2 CMS Ia2 CMS1A2 congenital presynaptic myasthenic syndrome associated with episodic apnea familial infantile myasthenia gravis 2 CMSEA FIM presynaptic congenital myasthenic syndrome 6 FIM, FORMERLY Myasthenia familial infantile Myasthenia Gravis, Familial Infantile, 2 MYASTHENIA GRAVIS, FAMILIAL INFANTILE, 2, FORMERLY Cms Ia2, Formerly Congenital myasthenic syndrome type 1a MYASTHENIA, FAMILIAL INFANTILE, FORMERLY Myasthenia gravis familial infantile 2 (formerly) CMS-EA CONGENITAL MYASTHENIC SYNDROME TYPE Ia2, FORMERLY MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC Myasthenic Syndrome, Presynaptic, Congenital, Associated With Episodic Apnea congenital myasthenic syndrome type 6 CMS1A2, FORMERLY Myasthenia, Familial Infantile Congenital myasthenic syndrome with episodic apnea CMS w/episodic apnea Myasthenic Syndrome, Congenital, Associated With Episodic Apnea Congenital Myasthenic Syndrome Type Ia CMS1A Myasthenic syndrome congenital associated with episodic apnea FIMG2, FORMERLY MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 FIMG2 (formerly)