| Metadata | |
|---|---|
| ID | DOID:0110285 |
| Name | autosomal recessive limb-girdle muscular dystrophy type 2Q |
| Definition | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene. https://www.ncbi.nlm.nih.gov/pubmed/21109228 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency [EXACT] LGMD2Q [EXACT] muscular dystrophy, limb-girdle, type 2Q [EXACT] |
| Parent Relationships |