Term Name: | autosomal recessive limb-girdle muscular dystrophy type 2H |
---|---|
Synonyms: | LGMD2H, limb-girdle muscular dystrophy due to TRIM32 deficiency, muscular dystrophy Hutterite type, sarcotubular myopathy |
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. |
Ontology: | Human Disease [DOID:0110282] ( DOID:0110282 ) |