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Human Disease

distal myopathy with anterior tibial onset

Term ID
DOID:0111187
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. (2)
References
Ontology
Human Disease   ( DOID:0111187 )
Relationships
is a type of
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Genes Involved
Zebrafish Models