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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:0000020 | Urinary incontinence |
| HP:0000028 | Cryptorchidism |
| HP:0000508 | Ptosis |
| HP:0000544 | External ophthalmoplegia |
| HP:0000883 | Thin ribs |
| HP:0001048 | Cavernous hemangioma |
| HP:0001290 | Generalized hypotonia |
| HP:0001436 | Abnormality of the foot musculature |
| HP:0001520 | Large for gestational age |
| HP:0001558 | Decreased fetal movement |
