Congenital myasthenic syndrome 4B

Definition

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.

Also known as CMS4B, congenital myasthenic syndrome type 4B — per MONDO

Also identified as

• DOID 0110677 per MONDO
• OMIM 616324 per MONDO
• UMLS C4225369 per MONDO