Congenital myasthenic syndrome 12

Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene.

Also known as: CMS12, GFPT1 congenital myasthenic syndromes with glycosylation defect, congenital myasthenic syndrome type 12, congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1, myasthenia, congenital, 12, with tubular aggregates, myasthenic syndrome, congenital, type 12, myasthenic syndrome, congenital, 12, myasthenic syndrome, congenital, with tubular aggregates 1

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