Term Name: | autosomal recessive limb-girdle muscular dystrophy type 28 |
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Synonyms: | LGMDR28, Limb-girdle, type 28R |
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. |
Ontology: | Human Disease [DOID:0061130] ( DOID:0061130 ) |