About   Help   FAQ
Disease Ontology Browser
autosomal recessive limb-girdle muscular dystrophy type 2A (DOID:0110275)
Alliance: disease page
Synonyms: Leyden-Moebius muscular dystrophy; LGMD2A; limb-girdle muscular dystrophy due to calpain deficiency; muscular dystrophy, limb-girdle, type 2A; pelvofemoral muscular dystrophy; primary calpainopathy
Alt IDs: OMIM:253600, ICD10CM:G71.0, ORDO:267
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15.

Disease References using Mouse Models (4)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
12/13/2017
MGI 6.11
The Jackson Laboratory