Conditions / Genetic
glycogen storage disease X
info · Genetic
A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the PGAM2 gene, which encodes muscle phosphoglycerate mutase, on chromosome 7p13.
Signs and symptoms
- Elevated circulating creatine kinase activity
- Rhabdomyolysis
- Myopathy
- Renal insufficiency
- Myoglobinuria
- Exercise-induced myalgia
- Exercise-induced muscle cramps
- Exercise intolerance