Congenital myasthenic syndrome 6
Congenital myasthenic syndrome 6
Definition
Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner.
Also known as CHAT congenital myasthenic syndrome, CMS6, CMSEA, congenital myasthenic syndrome 6, congenital myasthenic syndrome caused by mutation in CHAT, congenital myasthenic syndrome type 6, FIM, presynaptic congenital myasthenic syndrome 6 — per MONDO