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Metadata
ID DOID:0080762
Name autosomal recessive limb-girdle muscular dystrophy type 2Z
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.
https://pubmed.ncbi.nlm.nih.gov/27807076/, https://pubmed.ncbi.nlm.nih.gov/31897643/
Xrefs

MIM:617232

ORDO:480682

Subsets

DO_rare_slim

Synonyms

limb-girdle muscular dystrophy 21 [EXACT]

Parent Relationships

is_a autosomal recessive limb-girdle muscular dystrophy

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