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Congenital myasthenic syndrome 2C
rareA 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.
- Identifiers
- MONDO:0014582 OMIM:616314
- Causal genes
- CHRNB1
- Also known as
- CMS2C · congenital myasthenic syndrome type 2C · myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency
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