Human genes for congenital myasthenic syndrome 11
Congenital myasthenic syndrome 11 [DOID:0110675]
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of AChR at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.
Synonyms: congenital myasthenic syndrome 11, DOID:0110675, CMS11, CMS1E, CMS Ie ...