Myasthenic syndrome, congenital, 1B, fast-channel

Definition

A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q.

Also known as CMS1B, congenital myasthenic syndrome type 1B, myasthenic syndrome, congenital, 1B, fast-channel — per MONDO

Also identified as

• DOID 0110662 per MONDO
• OMIM 608930 per MONDO
• UMLS C4225405 per MONDO