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autosomal recessive limb-girdle muscular dystrophy type 2H
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110282
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
