OBO ID: DOID:0110665
Term Name: congenital myasthenic syndrome 3B Search Ontology:
Synonyms:
  • CMS3B
  • congenital myasthenic syndrome 3B, fast-channel
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37. (2)
References:
Ontology: Human Disease   (DOID:0110665)
OTHER congenital myasthenic syndrome 3B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CHRND Myasthenic syndrome, congenital, 3B, fast-channel 616322
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None