Version: 8.0.0
Date: Tue Jan 28 2025
congenital myasthenic syndrome 9
DOID:0110670
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

congenital myasthenic syndrome 9

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.
Synonyms
  • CMS9
  • congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency
Cross References
Parent Terms
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