Term Name: | autosomal recessive limb-girdle muscular dystrophy type 2Z |
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Synonyms: | limb-girdle muscular dystrophy 21 |
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. |
Ontology: | Human Disease [DOID:0080762] ( DOID:0080762 ) |