Congenital myasthenic syndrome 6

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, FIM, congenital myasthenic syndrome 6, congenital myasthenic syndrome caused by mutation in CHAT, congenital myasthenic syndrome type 6, presynaptic congenital myasthenic syndrome 6

1 clinical trial for this condition and its sub-types.