Human genes for congenital myasthenic syndrome 12
Congenital myasthenic syndrome 12 [DOID:0110660]
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13.
Synonyms: congenital myasthenic syndrome 12, DOID:0110660, CMS12, congenital myasthenia 12 with tubular aggregates