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autosomal recessive limb-girdle muscular dystrophy type 2Q
Summary
- Synonym
-
- LGMD2Q
- autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency
- 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.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110285
- Mondo Disease Ontology
- ORDO
- OMIM
