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Disease Ontology Browser
congenital myasthenic syndrome 13 (DOID:0110676)
Synonyms: CMS13; CMSTA2; congenital myasthenic syndrome 13 with tubular aggregates; congenital myasthenic syndrome with tubular aggregates 2
Alt IDs: OMIM:614750
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23.


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/20/2017
MGI 6.10
The Jackson Laboratory