|
General Information
|
| Term |
autosomal recessive limb-girdle muscular dystrophy type 2A |
ID (Ontology) |
DOID:0110275 (Human Disease) |
| 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. |
| Also Known As |
"Leyden-Moebius muscular dystrophy" ; "LGMD2A" ; "limb-girdle muscular dystrophy due to calpain deficiency" (for all, see Synonyms field below) |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
|
No relevant records available
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Genes |
|---|
autosomal recessive limb-girdle muscular dystrophy type 2A | 3 | for disease ribbon | autosomal recessive limb-girdle muscular dystrophy type 2A | 3 | model of | autosomal recessive limb-girdle muscular dystrophy type 2A | 3 |
|
Relationships