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Summary Literature (0)
DOID:0110282 - autosomal recessive limb-girdle muscular dystrophy type 2H


Disease Ontology Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q.

Synonyms: LGMD2H, limb-girdle muscular dystrophy due to TRIM32 deficiency, muscular dystrophy Hutterite type, sarcotubular myopathy

Referenced OMIM:
OMIM:254110 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; LGMDR8

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : trim32

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal recessive limb-girdle muscular dystrophy (is_a)


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