Term Name: | autosomal dominant limb-girdle muscular dystrophy type 2 |
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Synonyms: | autosomal dominant limb-girdle muscular dystrophy type 1F, LGMD1F, muscular dystrophy limb-girdle type 1F |
Definition: | An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32. |
Ontology: | Human Disease [DOID:0110304] ( DOID:0110304 ) |