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Disease Ontology Browser
congenital myasthenic syndrome 10 (DOID:0110668)
Alliance: disease page
Synonyms: CMS10; congenital muscular dystrophy merosin-positive; familial limb-girdle myasthenia; LGM
Alt IDs: OMIM:254300
Definition: A congenital myasthenic syndrome characterized by autosomal recessive 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 4p16.3.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory