Congenital myasthenic syndrome 2A

A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.

Also known as: CMS2A, congenital myasthenic syndrome type 2A, CMS IIa, SCCMS, myasthenic syndrome, congenital, 2A, slow-channel, myasthenic syndrome, congenital, postsynaptic slow-channel, myasthenic syndrome, congenital, slow-channel, myasthenic syndrome, congenital, type IIa

1 clinical trial for this condition and its sub-types.