P.75Targeted population screening of late onset Pompe disease in unspecified myopathy patients with 8 neuromuscular centers in Korea

Pompe disease is a rare autosomal recessive disorder caused by the deficiency of a lysosomal enzyme, acid alpha-glucosidase (GAA). Early diagnosis and start with enzyme replacement therapy (ERT) have remarkable effects on the prognosis of Pompe disease. Recently, we reported the results of targeted population screening study for late-onset Pompe disease (LOPD) in Korea, including 2.2% detection rate of LOPD. And now we performed the expanded...