Search Ontology:
Human Disease

congenital myasthenic syndrome 1A

Term ID
DOID:0110663
Synonyms
  • 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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models