Term Name: | autosomal recessive limb-girdle muscular dystrophy type 2G |
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Synonyms: | LGMD2G, limb-girdle muscular dystrophy due to telethonin deficiency, muscular dystrophy, limb-girdle, type 2G |
Definition: | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP). |
Ontology: | Human Disease [DOID:0110281] ( DOID:0110281 ) |