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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
- ORDO
