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

• MIM:606768
• ORDO:178400

Ontology

Human Disease   ( DOID:0111187 )