Term Name: | autosomal recessive limb-girdle muscular dystrophy type 2Q |
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Synonyms: | autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency, LGMD2Q, muscular dystrophy, limb-girdle, type 2Q |
Definition: | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene. |
Ontology: | Human Disease [DOID:0110285] ( DOID:0110285 ) |