OBO ID: DOID:0110677
Term Name: congenital myasthenic syndrome 4B Search Ontology:
Synonyms:
  • CMS4B
  • congenital myasthenic syndrome 4B fast-channel
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. (2)
References:
Ontology: Human Disease   (DOID:0110677)
OTHER congenital myasthenic syndrome 4B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CHRNE Myasthenic syndrome, congenital, 4B, fast-channel 616324
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None