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Disease Ontology Browser
congenital myasthenic syndrome 12 (DOID:0110660)
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/13/2017
MGI 6.10
The Jackson Laboratory