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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:0001561 | Polyhydramnios |
| HP:0002021 | Pyloric stenosis |
| HP:0002047 | Malignant hyperthermia |
| HP:0002194 | Delayed gross motor development |
| HP:0002355 | Difficulty walking |
| HP:0002522 | Areflexia of lower limbs |
| HP:0002747 | Respiratory insufficiency due to muscle weakness |
| HP:0003458 | EMG: myopathic abnormalities |
| HP:0003477 | Peripheral axonal neuropathy |
| HP:0003687 | Centrally nucleated skeletal muscle fibers |
