Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
distal myopathy with anterior tibial onset
Summary
- Synonym
-
- DMAT
- distal muscular dystrophy with anterior tibial onset
- Definition
- A distal myopathy that is characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13.
- Super Class
- autosomal recessive disease distal myopathy
External Links
- Disease Ontology
- DOID:0111187
- Mondo Disease Ontology
- ORDO
- OMIM
