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GNE myopathy
Summary
- Synonym
-
- Distal myopathy, Nonaka type
- Hereditary Inclusion Body Myopathy
- Nonaka myopathy
- inclusion body myopathy 2
- Definition
- A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis.
- Super Class
- autosomal recessive disease myopathy
External Links
- Disease Ontology
- DOID:0080718
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003547 | Shoulder girdle muscle weakness |
| HP:0007210 | Lower limb amyotrophy |
| HP:0001638 | Cardiomyopathy |
| HP:0003731 | Quadriceps muscle weakness |
| HP:0001324 | Muscle weakness |
| HP:0006251 | Limited wrist extension |
| HP:0003438 | Absent Achilles reflex |
| HP:0008180 | Mildly elevated creatine kinase |
| HP:0003691 | Scapular winging |
