Search Ontology:
Human Disease

congenital myasthenic syndrome 2C

Term ID
DOID:0110680
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 compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. (2)
References
Ontology
Human Disease   ( DOID:0110680 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models