DISEASES

Disease-gene associations mined from literature

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