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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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P50570 | Dynamin-2 | |
| Q8NCE2 | Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P21576 | Vacuolar protein sorting-associated protein 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002522 | Areflexia of lower limbs |
| HP:0001436 | Abnormality of the foot musculature |
| HP:0005268 | Miscarriage |
| HP:0000544 | External ophthalmoplegia |
| HP:0003687 | Centrally nucleated skeletal muscle fibers |
| HP:0008997 | Proximal muscle weakness in upper limbs |
| HP:0002021 | Pyloric stenosis |
| HP:0000028 | Cryptorchidism |
| HP:0003458 | EMG: myopathic abnormalities |
| HP:0008981 | Calf muscle hypertrophy |
