Search Ontology:
Human Disease
congenital myasthenic syndrome 1A
- Term ID
- DOID:0110663
- Synonyms
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- CMS IIa
- CMS1A
- CMS2A
- congenital myasthenic syndrome 1A, slow-channel
- congenital myasthenic syndrome type IIa
- Definition
- A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. (2)
- References
- Ontology
- Human Disease ( DOID:0110663 )
- is a type of
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Genes Involved
Zebrafish Models