Human genes for congenital myasthenic syndrome 8
Congenital myasthenic syndrome 8 [DOID:0110657]
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p.
Synonyms: congenital myasthenic syndrome 8, DOID:0110657, CMS8, congenital myasthenic syndrome 8 with pre- and postsynaptic defects, congenital myasthenic syndrome due to agrin deficiency ...