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myofibrillar myopathy 1 (DOID:0080092)
Alliance: disease page
Synonyms: autosomal recessive limb-girdle muscular dystrophy type 2R; desminopathy
Alt IDs: OMIM:601419, ICD10CM:G71.0, ORDO:363543
Definition: A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35.

Disease References using Mouse Models (6)
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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Send questions and comments to User Support. 		last database update
09/30/2025
MGI 6.24 		The Jackson Laboratory