Congenital Myasthenic Syndrome 5

**Semantic type:** Disease or Syndrome

**Definition:** Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.

**Synonyms:** - CMS5 - EAD - Endplate Acetylcholinesterase Deficiency