Congenital myasthenic syndrome 4A

Definition

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 — per MONDO

Also identified as

• DOID 0110678 per MONDO
• OMIM 605809 per MONDO
• UMLS C4225413 per MONDO