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centronuclear myopathy X-linked
Summary
- Synonym
-
- CNMX
- MTM1
- X-linked myotubular myopathy
- XLCNM
- XLMTM
- myotubular myopathy 1
- Definition
- A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28.
- Super Class
- centronuclear myopathy
External Links
- Disease Ontology
- DOID:0111225
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P22303 | Acetylcholinesterase | |
| P22304 | Iduronate 2-sulfatase | |
| Q13613 | Myotubularin-related protein 1 | |
| Q13614 | Myotubularin-related protein 2 | |
| Q8NCE2 | Myotubularin-related protein 14 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000348 | High forehead |
| HP:0002643 | Neonatal respiratory distress |
| HP:0000256 | Macrocephaly |
| HP:0001166 | Arachnodactyly |
| HP:0001419 | X-linked recessive inheritance |
| HP:0003324 | Generalized muscle weakness |
| HP:0000544 | External ophthalmoplegia |
| HP:0009110 | Diaphragmatic eventration |
| HP:0001284 | Areflexia |
| HP:0000275 | Narrow face |
