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autosomal recessive limb-girdle muscular dystrophy type 2B (DOID:0110276)
Alliance: disease page
Synonyms: LGMD2B; LGMD3; limb-girdle muscular dystrophy due to dysferlin deficiency; limb-girdle muscular dystrophy type 3
Alt IDs: OMIM:253601, ICD10CM:G71.0, ORDO:268
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13.

Disease References using Mouse Models (11)

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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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory