congenital myasthenic syndrome 2A

Rare Disease

MONDO:0014581

Also Known As

CMS2Acongenital myasthenic syndrome 2A slow-channelcongenital myasthenic syndrome type 2ACMS IIaSCCMSmyasthenic syndrome, congenital, 2A, slow-channelmyasthenic syndrome, congenital, postsynaptic slow-channelmyasthenic syndrome, congenital, slow-channelmyasthenic syndrome, congenital, type IIaslow channel congenital myasthenic syndrome

Definition

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.