OBO ID: DOID:0110662
Term Name: congenital myasthenic syndrome 1B Search Ontology:
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)
OTHER congenital myasthenic syndrome 1B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CHRNA1 Myasthenic syndrome, congenital, 1B, fast-channel 608930
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None