Term Name: | distal myopathy with anterior tibial onset |
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Synonyms: | distal muscular dystrophy with anterior tibial onset, DMAT |
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. |
Ontology: | Human Disease [DOID:0111187] ( DOID:0111187 ) |