| Metadata | |
|---|---|
| ID | DOID:0061130 |
| Name | autosomal recessive limb-girdle muscular dystrophy type 28 |
| Definition | An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCR gene on chromosome 5q13. https://pubmed.ncbi.nlm.nih.gov/36745799/ |
| Xrefs | |
| SKOS |
exactMatch MIM:620375 |
| Synonyms |
LGMDR28 [EXACT] Limb-girdle, type 28R [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |