Version: 8.0.0
Date: Tue Jan 28 2025
distal myopathy with anterior tibial onset
DOID:0111187
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

distal myopathy 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.
Synonyms
  • distal muscular dystrophy with anterior tibial onset
  • DMAT
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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