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myotonic dystrophy type 2
Summary
- Definition
- A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.
- Super Class
- myotonic disease
External Links
- Disease Ontology
- DOID:0050759
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 5621 | PRNP | prion protein (Kanno blood group) | |
| 6401 | SELE | selectin E | |
| 6403 | SELP | selectin P | |
| 6476 | SI | sucrase-isomaltase | |
| 6517 | SLC2A4 | solute carrier family 2 member 4 | |
| 6900 | CNTN2 | contactin 2 | |
| 7368 | UGT8 | UDP glycosyltransferase 8 | |
| 7903 | ST8SIA4 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | |
| 8776 | MTMR1 | myotubularin related protein 1 |
Related Glycoprotein
