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Disease Ontology Browser
congenital myasthenic syndrome 10 (DOID:0110668)
Synonyms: CMS1B; CMS10; CMS Ib; congenital myasthenic syndrome type Ib; familial limb-girdle myasthenia; LGM
Alt IDs: OMIM:254300
Definition: A congenital myasthenic syndrome characterized by autosomal inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p.

Disease References using Mouse Models (1)

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
09/12/2017
MGI 6.10
The Jackson Laboratory