| Term Name: | autosomal recessive limb-girdle muscular dystrophy type 2Q |
|---|---|
| Synonyms: | autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency, LGMD2Q, muscular dystrophy, limb-girdle, type 2Q |
| Definition: | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene. |
| Ontology: | Human Disease [DOID:0110285] ( DOID:0110285 ) |