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Metadata
ID	DOID:0110660
Name	congenital myasthenic syndrome 12
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. https://www.ncbi.nlm.nih.gov/pubmed/12467753, https://www.ncbi.nlm.nih.gov/pubmed/21310273
Xrefs	OMIM:610542
Synonyms	CMS12 [EXACT] congenital myasthenia 12 with tubular aggregates [EXACT]
Parent Relationships	is_a congenital myasthenic syndrome is_a autosomal recessive disease