Term Name:	congenital myasthenic syndrome 9
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.
Ontology:	Human Disease [DOID:0110670]   ( DOID:0110670 )