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DO Term : distal myopathy with anterior tibial onset [DOID:0111187] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • DMAT,
  • distal muscular dystrophy with anterior tibial onset,
  • ORDO:178400,
  • 606768,
  • OMIM:606768
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