Term Name: autosomal recessive limb-girdle muscular dystrophy type 28
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 )

Relationships
is a type of: autosomal recessive limb-girdle muscular dystrophy