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MIRAGE
autosomal recessive limb-girdle muscular dystrophy type 2L
Summary
- Synonym
-
- LGMD2L
- muscular dystrophy, limb-girdle, type 2L
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110284
- Mondo Disease Ontology
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75072 | Ribitol-5-phosphate transferase FKTN | |
| Q75V66 | Anoctamin-5 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q75UR0 | Anoctamin-5 |
