congenital myasthenic syndrome 9 (DOID:0110670)
Alliance: disease page
Synonyms: CMS9; congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency
Alt IDs: OMIM:616325
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.