[Pj-072] Metabolic disorders (Clinical genetics2)

[Pj-072-3] A family with leukoencephalopathy carrying COX10 mutation and deletion of PMP22: genetic analysis

^○Takanobu Ishiguro^1,2, Yasuko Kuroha^2,3, Norikazu Hara², Naomi Mezaki^1,2, Takeshi Miura^1,2, Kensaku Kasuga², Arika Hasegawa³, Takashi Tani³, Tetsuya Takahashi³, Nae Matsubara³, Mari Tada⁴, Izumi Kawachi¹, Akiyoshi Kakita⁴, Osamu Onodera¹, Ryoko Koike³, Takeshi Ikeuchi² (1.Department of Neurology, Brain Research Institute, Niigata University, 2.Department of Molecular Genetics, Brain Research Institute, Niigata University, 3.Department of Neurology, Nishi-Niigata Chuo National Hospital, 4.Department of Pathology, Brain Research Institute, Niigata University)