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MIRAGE
distal myopathy with rimmed vacuoles
Summary
- Definition
- A distal myopathy that is characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles and that has_material_basis_in by heterozygous mutation in the SQSTM1 gene on chromosome 5q35.
- Super Class
- autosomal dominant disease distal myopathy
External Links
- Disease Ontology
- DOID:0081363
- ORDO
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13501 | Sequestosome-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003724 | Shoulder girdle muscle atrophy |
| HP:0001436 | Abnormality of the foot musculature |
| HP:0006467 | Limited shoulder movement |
| HP:0003458 | EMG: myopathic abnormalities |
| HP:0007340 | Lower limb muscle weakness |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0003376 | Steppage gait |
| HP:0003805 | Rimmed vacuoles |
| HP:0010628 | Facial palsy |
| HP:0100299 | Muscle fiber inclusion bodies |
