Congenital myasthenic syndrome 4A

A congenital myasthenic syndrome characterized by 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 or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.

Also known as: CMS4A, congenital myasthenic syndrome type 4A, Cms Ia1, Cms Ia1, formerly, congenital myasthenic syndrome type Ia1, congenital myasthenic syndrome type Ia1, formerly, myasthenic syndrome, congenital, 4A, slow-channel

0 clinical trials for this condition and its sub-types.