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Ullrich congenital muscular dystrophy
Summary
- Synonym
-
- ULLRICH DISEASE
- Ullrich scleroatonic muscular dystrophy
- Definition
- A congenital muscular dystrophy that is characterized by muscle weakness and respiratory depression and has_material_basis_in mutation in the COL6A1, COL6A2 and COL6A3 that produce components of type VI collagen.
- Super Class
- autosomal dominant disease autosomal recessive disease congenital muscular dystrophy
External Links
- Disease Ontology
- DOID:0050558
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6UVK1 | Chondroitin sulfate proteoglycan 4 |
