autosomal recessive limb-girdle muscular dystrophy type 28

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 o

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.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Elevated circulating alkaline phosphatase concentration
• Increased circulating troponin T concentration
• Reduced muscle fiber alpha dystroglycan
• Type 2 muscle fiber predominance
• Type 1 muscle fiber predominance
• Proximal muscle weakness
• Axial muscle weakness
• Upper limb amyotrophy
• Myalgia

Also known as: LGMDR28; Limb-girdle, type 28R