Congenital myasthenic syndrome 5

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, EAD, Engel congenital myasthenic syndrome, congenital myasthenic syndrome 5, congenital myasthenic syndrome caused by mutation in COLQ, congenital myasthenic syndrome type 5, myasthenic syndrome, congenital, type 5

0 clinical trials for this condition and its sub-types, 0 tagged with Congenital myasthenic syndrome 5 itself.