OBO ID: DOID:0110678
Term Name: congenital myasthenic syndrome 4A Search Ontology:
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)
OTHER congenital myasthenic syndrome 4A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CHRNE Myasthenic syndrome, congenital, 4A, slow-channel 605809
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None