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MIRAGE
autosomal recessive limb-girdle muscular dystrophy type 2U
Summary
- Synonym
-
- LGMD2U
- MDDGC7
- autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
- muscular dystrophy limb-girdle type 2U
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C7
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110295
- Mondo Disease Ontology
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q5RJG7 | D-ribitol-5-phosphate cytidylyltransferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001626 | Abnormality of the cardiovascular system |
| HP:0008997 | Proximal muscle weakness in upper limbs |
| HP:0002792 | Reduced vital capacity |
| HP:0003691 | Scapular winging |
| HP:0006785 | Limb-girdle muscular dystrophy |
| HP:0008981 | Calf muscle hypertrophy |
| HP:0003677 | Slowly progressive |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0007340 | Lower limb muscle weakness |
| HP:0003236 | Elevated circulating creatine kinase concentration |
