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MIRAGE
autosomal recessive limb-girdle muscular dystrophy type 2X
Summary
- Synonym
-
- LGMD2X
- muscular dystrophy, limb-girdle, type 2X
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110290
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8NE79 | Popeye domain-containing protein 1 |
