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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:0001561 | Polyhydramnios |
| HP:0000508 | Ptosis |
| HP:0003477 | Peripheral axonal neuropathy |
| HP:0010546 | Muscle fibrillation |
| HP:0002747 | Respiratory insufficiency due to muscle weakness |
| HP:0001520 | Large for gestational age |
| HP:0008180 | Mildly elevated creatine kinase |
| HP:0000883 | Thin ribs |
| HP:0003738 | Exercise-induced myalgia |
| HP:0002047 | Malignant hyperthermia |
