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autosomal recessive limb-girdle muscular dystrophy type 2Y
Summary
- Synonym
-
- LGMD2Y
- autosomal recessive muscular dystrophy due to LAP1B deficiency
- autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
- muscular dystrophy with progressive weakness, distal contractures and rigid spine
- muscular dystrophy, limb-girdle, type 2Y
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110289
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1120 | CHKB | choline kinase beta | |
| 1497 | CTNS | cystinosin, lysosomal cystine transporter | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1634 | DCN | decorin | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 1800 | DPEP1 | dipeptidase 1 | |
| 2023 | ENO1 | enolase 1 | |
| 2218 | FKTN | fukutin | |
| 2548 | GAA | alpha glucosidase | |
| 2710 | GK | glycerol kinase |
Related Glycoprotein
