| Metadata | |
|---|---|
| ID | DOID:0110281 |
| PURL | http://purl.obolibrary.org/obo/DOID_0110281 Copy |
| Name | autosomal recessive limb-girdle muscular dystrophy type 2G |
| Definition | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP). https://www.ncbi.nlm.nih.gov/pubmed/10655062 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
LGMD2G [EXACT] limb-girdle muscular dystrophy due to telethonin deficiency [EXACT] muscular dystrophy, limb-girdle, type 2G [EXACT] |
| Parent Relationships |