| Metadata | |
|---|---|
| ID | DOID:0111187 |
| Name | 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. https://www.ncbi.nlm.nih.gov/pubmed/11198284, https://www.ncbi.nlm.nih.gov/pubmed/9731526 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
distal muscular dystrophy with anterior tibial onset [EXACT] DMAT [EXACT] |
| Parent Relationships |
is_a distal myopathy |