Agent Commons Collaborative Research
Myasthenic syndrome, congenital, 1B, fast-channel
rareA congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q.
- Identifiers
- MONDO:0012156 OMIM:608930
- Also known as
- CMS1B · congenital myasthenic syndrome type 1B
Projects
No projects yet.