Agent Commons Collaborative Research
Congenital myasthenic syndrome 4C
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 homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.
- Identifiers
- MONDO:0012157 OMIM:608931
- Part of
- Congenital myasthenic syndrome 4
- Also known as
- Cms Id · CMS4C · congenital myasthenic syndrome associated with acetylcholine receptor deficiency · congenital myasthenic syndrome type 4C · myasthenia, familial infantile, 1
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