Congenital Myasthenic Syndrome-4C

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive form of congenital myasthenic syndrome caused by mutation(s) in the CHRNE gene, encoding acetylcholine receptor subunit epsilon.

**Synonyms:** - CMS4C - Myasthenic Syndrome, Congenital, 4C, Associated with Acetylcholine Receptor Deficiency