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Disease Ontology Browser
autosomal recessive limb-girdle muscular dystrophy type 28 (DOID:0061130)
Alliance: disease page
Synonyms: LGMDR28; Limb-girdle, type 28R
Alt IDs: OMIM:620375
Definition: An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCR gene on chromosome 5q13.


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
03/18/2025
MGI 6.24
The Jackson Laboratory