Congenital myasthenic syndrome 2A

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.

Also known as CMS2A, congenital myasthenic syndrome type 2A — per MONDO

Also identified as

• DOID 0110681 per MONDO
• OMIM 616313 per MONDO
• UMLS C4225374 per MONDO