| 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
limb-girdle muscular dystrophy 21 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some progressive weakness has symptom some muscle weakness |