Search Ontology:
Human Disease
autosomal recessive limb-girdle muscular dystrophy type 2G
- Term ID
- DOID:0110281
- Synonyms
-
- LGMD2G
- limb-girdle muscular dystrophy due to telethonin deficiency
- muscular dystrophy, limb-girdle, 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
- References
-
- ICD10CM:G71.0
- MIM:601954
- ORDO:34514
- Ontology
- Human Disease ( DOID:0110281 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models