[E7] English Session 7
muscle disease

[E-037] A novel mutation in acid alpha—glucosidase gene in a pediatric case with late—onset Pompe disease

^○Shiro Ozasa¹, Tomoko Kashiki¹, Hidekazu Tachibana¹, Ken Momosaki¹, Keiko Nomura¹, Yasuhiro Indo¹, Motomichi Kosuga⁴, Torayuki Okuyama³, Hirofumi Komaki², Katsuhisa Ogata⁵, Kimitoshi Nakamura¹ (1.Department of Pediatrics, Kumamoto University, Kumamoto, Japan, 2.Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan, 3.Department of Clinical Laboratory Medicine, National Center for Child Health and Development Tokyo, Japan, 4.Division of Medical Genetics, National Center for Child Health and Development Tokyo, Japan, 5.Institute of Clinical Research, National Hospital Organization Higashisaitama Hospital, Hasuda-shi, Japan)