Search Ontology:
Human Disease
congenital myasthenic syndrome 1B
- Term ID
- DOID:0110662
- Synonyms
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- CMS1B
- congenital myasthenic syndrome 1B, fast-channel
- Definition
- A 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. (3)
- References
- Ontology
- Human Disease ( DOID:0110662 )
- is a type of
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Genes Involved
Zebrafish Models