Search Ontology:
Human Disease
congenital myasthenic syndrome 4A
- Term ID
- DOID:0110678
- Synonyms
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- CMS Ia1
- CMS1A1
- CMS4A
- congenital myasthenic syndrome 4A slow-channel
- congenital myasthenic syndrometype Ia1
- Definition
- A 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. (3)
- References
- Ontology
- Human Disease ( DOID:0110678 )
- is a type of
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