Congenital myasthenic syndrome 4C

Definition

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.

Also known as CMS4C, congenital myasthenic syndrome type 4C — per MONDO

Also identified as

• DOID 0110679 per MONDO
• OMIM 608931 per MONDO
• UMLS C1837091 per MONDO