OBO ID: DOID:0110680
Term Name: congenital myasthenic syndrome 2C Search Ontology:
Synonyms:
  • CMS2C
  • congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. (2)
References:
Ontology: Human Disease   (DOID:0110680)
OTHER congenital myasthenic syndrome 2C PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CHRNB1 ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency 616314
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None