Metadata | |
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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 | |
Subsets |
DO_rare_slim |
Synonyms |
limb-girdle muscular dystrophy 21 [EXACT] |
Parent Relationships |