# congenital myasthenic syndrome 1B

> 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

**Wikidata**: [Q32139946](https://www.wikidata.org/wiki/Q32139946)  
**Source**: https://4ort.xyz/entity/congenital-myasthenic-syndrome-1b


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating
5. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)