glycogen storage disease XIII

A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the ENO3 gene, which encodes beta-enolase, on chromosome 17p13.

Signs and symptoms

• Reduced muscle enolase activity
• Elevated circulating creatine kinase activity
• Increased muscle glycogen content
• Myalgia
• Exercise intolerance