OBO ID: DOID:0110681
Term Name: congenital myasthenic syndrome 2A Search Ontology:
Synonyms:
  • CMS2A
  • congenital myasthenic syndrome 2A slow-channel
Definition: A congenital myasthenic syndrome characterized by autosomal dominant inheritance of 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 mutation in the CHRNB1 gene on chromosome 17p13. (2)
References:
Ontology: Human Disease   (DOID:0110681)
OTHER congenital myasthenic syndrome 2A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CHRNB1 Myasthenic syndrome, congenital, 2A, slow-channel 616313
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None