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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
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0100284 | EMG: myotonic discharges |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0007340 | Lower limb muscle weakness |
| HP:0003376 | Steppage gait |
| HP:0009077 | Weakness of long finger extensor muscles |
| HP:0003805 | Rimmed vacuoles |
