autosomal recessive limb-girdle muscular dystrophy type 2Q (DOID:0110285)
Alliance: disease page
Synonyms: autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency; LGMD2Q; muscular dystrophy, limb-girdle, type 2Q
Alt IDs: OMIM:613723, ICD10CM:G71.0, ORDO:254361
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene.