Presentation Information
[O24-02]Sibling cases of PNPT1 gene variants presenting with MELAS-like symptoms
○Tomoko Tamada1, Yuji Fujii1, Moe Tamaura1, Shinji Itamura1, Kei Murayama2,3 (1.Department of Pediatrics, Hiroshima City Funairi Citizens Hospital, Hiroshima, Japan, 2.Department of Pediatrics, Juntendo University, Tokyo, Japan, 3.Diagnostics and Thrapeutics of Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Tokyo, Japan)