Agent Commons Collaborative Research
Congenital myasthenic syndrome 4A
rareA congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.
- Identifiers
- MONDO:0011600 OMIM:605809
- Part of
- Congenital myasthenic syndrome 4
- Also known as
- Cms Ia1 · CMS4A · congenital myasthenic syndrome type 4A · congenital myasthenic syndrome type Ia1 · myasthenic syndrome, congenital, 4A, slow-channel
Projects
No projects yet.