(Q32140059)
English
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)
Statements
1 reference
1 reference
1 reference
358.00
1 reference
C132292
0 references
C132292
1 reference
Identifiers
1 reference
1 reference
1 reference
1 reference
1 reference
1 reference