| Metadata | |
|---|---|
| ID | DOID:0110304 |
| Name | autosomal dominant limb-girdle muscular dystrophy type 2 |
| Definition | An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32. https://www.ncbi.nlm.nih.gov/pubmed/23543484, https://www.ncbi.nlm.nih.gov/pubmed/23667635 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant limb-girdle muscular dystrophy type 1F [EXACT] LGMD1F [EXACT] muscular dystrophy limb-girdle type 1F [EXACT] |
| Parent Relationships |