OBO ID: DOID:0110670
Term Name: congenital myasthenic syndrome 9 Search Ontology:
Synonyms:
  • CMS9
  • congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31. (2)
References:
Ontology: Human Disease   (DOID:0110670)
OTHER congenital myasthenic syndrome 9 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MUSK Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 616325
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None