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autosomal recessive limb-girdle muscular dystrophy type 2A
Summary
- Synonym
-
- LGMD2A
- Leyden-Moebius muscular dystrophy
- limb-girdle muscular dystrophy due to calpain deficiency
- muscular dystrophy, limb-girdle, type 2A
- pelvofemoral muscular dystrophy
- primary calpainopathy
- 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.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110275
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
