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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

MIM:620375

SKOS

exactMatch MIM:620375

Synonyms

LGMDR28 [EXACT]

Limb-girdle, type 28R [EXACT]

Parent Relationships

is_a autosomal recessive limb-girdle muscular dystrophy

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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