Human genes for congenital myasthenic syndrome 2C
Congenital myasthenic syndrome 2C [DOID:0110680]
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.
Synonyms: congenital myasthenic syndrome 2C, DOID:0110680, CMS2C, congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency