OBO ID: DOID:0110666
Term Name: congenital myasthenic syndrome 3A Search Ontology:
Synonyms:
  • CMS3A
  • congenital myasthenic syndrome 3A, slow-channel
Definition: A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37. (2)
References:
Ontology: Human Disease   (DOID:0110666)
OTHER congenital myasthenic syndrome 3A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CHRND ?Myasthenic syndrome, congenital, 3A, slow-channel 616321
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None