| Metadata | |
|---|---|
| ID | DOID:0110275 |
| Name | autosomal recessive limb-girdle muscular dystrophy type 2A |
| Definition | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15. https://www.ncbi.nlm.nih.gov/pubmed/7720071 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Leyden-Moebius muscular dystrophy [EXACT] LGMD2A [EXACT] limb-girdle muscular dystrophy due to calpain deficiency [EXACT] muscular dystrophy, limb-girdle, type 2A [EXACT] pelvofemoral muscular dystrophy [EXACT] primary calpainopathy [EXACT] |
| Parent Relationships |