Presentation Information
[P2-05-5]An early neonatal death case of X-linked myotubular myopathy successfully diagnosed after birth by exome sequencing
Akinori Nukariya1, Yuki Ito1, Yuto Turuoka1, Takeshi Nagao2, Tokumasa Suemitu1, Taisuke Sato1, Erina Nagao3, Masahisa Kobayashi3, Kana Harada4, Chisen Takeuchi4, Hiromi Kamura2, Ryo Kikuchi5,6, Kenji Kobayashi5, Hitoshi Matui1, Taizan Kamide1, Kosuke Taniguchi7, Kenichiro Hata7, Masayuki Shimoda5, Osamu Samura1, Aikou Okamoto1 (1.Department of Obstetrics and Gynecology, The Jikei University School of Medicine, 2.Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, 3.Department of Pediatrics, The Jikei University School of Medicine, 4.Department of Clinical Genetics, The Jikei University Hospital, 5.Department of Pathology, The Jikei University School of Medicine, 6.Toda Central Pathology Institute, 7.Department of Human Molecular Genetics, Gunma University Graduate School of Medicine)
Password required to view
Log in
or