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Congenital myasthenic syndrome 3C
rareA congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37.
- Identifiers
- MONDO:0014585 OMIM:616323
- Causal genes
- CHRND
- Also known as
- CMS3C · congenital myasthenic syndrome type 3C · myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency
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