congenital myasthenic syndrome 12 (DOID:0110660)
Alliance: disease page
Synonyms: CMS12; congenital myasthenia 12 with tubular aggregates
Alt IDs: OMIM:610542
Definition: 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.