OBO ID: DOID:0110663
Term Name: congenital myasthenic syndrome 1A Search Ontology:
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)
OTHER congenital myasthenic syndrome 1A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CHRNA1 Myasthenic syndrome, congenital, 1A, slow-channel 601462
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None