Term Name:	congenital myasthenic syndrome 12
Synonyms:	CMS12, congenital myasthenia 12 with tubular aggregates
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.
Ontology:	Human Disease [DOID:0110660]   ( DOID:0110660 )