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autosomal recessive limb-girdle muscular dystrophy type 2Z
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0080762
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8NBL1 | Protein O-glucosyltransferase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0006785 | Limb-girdle muscular dystrophy |
| HP:0002091 | Restrictive ventilatory defect |
| HP:0011462 | Young adult onset |
| HP:0003691 | Scapular winging |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0008994 | Proximal muscle weakness in lower limbs |
| HP:0003677 | Slowly progressive |
| HP:0012548 | Fatty replacement of skeletal muscle |
| HP:0002093 | Respiratory insufficiency |
