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Human Disease
congenital myasthenic syndrome 2A
- Term ID
- DOID:0110681
- Synonyms
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- CMS2A
- congenital myasthenic syndrome 2A slow-channel
- Definition
- A congenital myasthenic syndrome characterized by autosomal dominant inheritance of 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 mutation in the CHRNB1 gene on chromosome 17p13. (2)
- References
- Ontology
- Human Disease ( DOID:0110681 )
- is a type of
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