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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:0003712 | Skeletal muscle hypertrophy |
| HP:0005335 | Sleepy facial expression |
| HP:0007126 | Proximal amyotrophy |
| HP:0008948 | Proximal upper limb amyotrophy |
| HP:0009053 | Distal lower limb muscle weakness |
| HP:0010628 | Facial palsy |
| HP:0100284 | EMG: myotonic discharges |
