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autosomal recessive limb-girdle muscular dystrophy type 2E
Summary
- Synonym
-
- Beta-sarcoglycanopathy
- LGMD2E
- Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
- muscular dystrophy, limb-girdle, type 2E
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110279
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
