CMS12GFPT1 congenital myasthenic syndromes with glycosylation defectcongenital myasthenia 12 with tubular aggregatescongenital myasthenic syndrome type 12congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1myasthenia, congenital, 12, with tubular aggregatesmyasthenic syndrome, congenital, type 12myasthenic syndrome, congenital, 12myasthenic syndrome, congenital, with tubular aggregates 1
Definition
Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene.
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