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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
tibial muscular dystrophy
Summary
- Synonym
-
- Finnish tibial muscular dystrophy
- TMD
- Tardive tibial muscular dystrophy
- Udd myopathy
- Udd type distal myopathy
- distal titinopathy
- Definition
- A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31.
- Super Class
- autosomal dominant disease distal myopathy
External Links
- Disease Ontology
- DOID:0111078
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00443 | Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha | |
| P21964 | Catechol O-methyltransferase |
