Search Ontology:
Human Disease

congenital myasthenic syndrome 4A

Term ID
DOID:0110678
Synonyms
  • 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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models