[O13] 代謝・神経変性疾患 1

[O13-2] Siblings of FBXL4-related mitochondrial DNA depletion syndrome, leading to fatal fulminant pneumonia.

^○Takato Akiba^1,2, Shino Shimada^1,3, Shoji Ishida¹, Shinpei Matsuda¹, Natsuki Okawa¹, Yosuke Baba¹, Mitsuru Ikeno¹, Shinpei Abe¹, Toshiaki Shimizu¹, Yasushi Okazaki⁴, Kei Murayama^1,4 (1.Department of Pediatrics, Juntendo University,Tokyo,Japan, 2.Department of Pediatrics, Juntendo University Urayasu Hospital,Chiba,Japan, 3.Department of Pediatrics, NHO shizuoka Institue of Epilepsy and Neurological Disorders National Epilepsy Center,Shizuoka,Japan, 4.Research Center for Diagnosis and Treatment of Intractable Diseases, Juntendo University Graduate School of Medicine,Tokyo,Japan)