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Bethlem myopathy
Summary
- Synonym
-
- benign congenital muscular dystrophy
- Definition
- A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene.
- Super Class
- congenital muscular dystrophy
External Links
- Disease Ontology
- DOID:0050663
- Mondo Disease Ontology
- MeSH
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P98160 | Basement membrane-specific heparan sulfate proteoglycan core protein | |
| Q14118 | Dystroglycan 1 | |
| Q9H9S5 | Ribitol 5-phosphate transferase FKRP |
