autosomal recessive limb-girdle muscular dystrophy type 2Z (DOID:0080762)
Alliance: disease page
Synonyms: limb-girdle muscular dystrophy 21
Alt IDs: OMIM:617232, ORDO:480682
Definition: An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13.