Human genes for congenital myasthenic syndrome 9
Congenital myasthenic syndrome 9 [DOID:0110670]
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: congenital myasthenic syndrome 9, DOID:0110670, CMS9, congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency, associated with acetylcholine receptor deficiency congenital myasthenic syndrome 9 ...