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Disease Ontology Browser
congenital myasthenic syndrome 1B (DOID:0110662)
Synonyms: CMS1B; congenital myasthenic syndrome 1B, fast-channel
Alt IDs: OMIM:608930
Definition: A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.


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
08/15/2017
MGI 6.10
The Jackson Laboratory