Congenital myasthenic syndrome 2C

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 ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.

Also known as CMS2C, congenital myasthenic syndrome type 2C — per MONDO

Also identified as

• DOID 0110680 per MONDO
• OMIM 616314 per MONDO
• UMLS C4225373 per MONDO