autosomal recessive limb-girdle muscular dystrophy type 28

Term ID

DOID:0061130

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. https://pubmed.ncbi.nlm.nih.gov/36745799/

References

• MIM:620375

Ontology

Human Disease   ( DOID:0061130 )