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Human Disease

congenital myasthenic syndrome 1B

Term ID
DOID:0110662
Synonyms
  • 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 )
Relationships
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Genes Involved
Zebrafish Models