OBO ID: DOID:0110664
Term Name: congenital myasthenic syndrome 3C Search Ontology:
Synonyms:
  • congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37. https://www.ncbi.nlm.nih.gov/pubmed/16916845
References:
Ontology: Human Disease   (DOID:0110664)
OTHER congenital myasthenic syndrome 3C PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CHRND ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency 616323
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None