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Ullrich congenital muscular dystrophy 1C
Summary
- Definition
- An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous or heterozygous mutation in the COL6A3 gene on chromosome 2q37.
- Super Class
- Ullrich congenital muscular dystrophy
External Links
- Disease Ontology
- DOID:0060943
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P12111 | Collagen alpha-3(VI) chain |
