Metadata | |
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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 |