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centronuclear myopathy 1
Summary
- Synonym
-
- CNM1
- Definition
- An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2.
- Super Class
- autosomal dominant centronuclear myopathy
External Links
- Disease Ontology
- DOID:0111223
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8NCE2 | Myotubularin-related protein 14 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001270 | Motor delay |
| HP:0001284 | Areflexia |
| HP:0001371 | Flexion contracture |
| HP:0003307 | Hyperlordosis |
| HP:0003388 | Easy fatigability |
| HP:0003577 | Congenital onset |
| HP:0003593 | Infantile onset |
| HP:0003677 | Slowly progressive |
| HP:0003701 | Proximal muscle weakness |
