Term Name: | autosomal recessive limb-girdle muscular dystrophy type 2B |
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Synonyms: | LGMD2B, LGMD3, limb-girdle muscular dystrophy due to dysferlin deficiency, limb-girdle muscular dystrophy type 3 |
Definition: | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13. |
Ontology: | Human Disease [DOID:0110276] ( DOID:0110276 ) |