Congenital myasthenic syndrome 5
Congenital myasthenic syndrome 5
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.
Also known as CMS5, COLQ congenital myasthenic syndrome, congenital myasthenic syndrome 5, congenital myasthenic syndrome caused by mutation in COLQ, congenital myasthenic syndrome type 5, EAD, Engel congenital myasthenic syndrome, myasthenic syndrome, congenital, type 5 — per MONDO