Term Name: distal myopathy with anterior tibial onset
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 )

Relationships
is a type of: autosomal recessive disease distal myopathy