[O32] Oral Presentation
muscle disease 3

Sat. Jun 17, 2017 1:10 PM - 2:20 PM Room No.9 (8F Conference Room 801-802)

Chair:Shiro Ozasa(Department of Pediatrics, Kumamoto University, Kumamoto, Japan), Akihiko Ishiyama(Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatrym, Tokyo, Japan)

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[O-188] A case of LMNA related congenital muscular dystrophy with dropped head

^○Kanami Maegawa¹, Koji Tominaga², Takeshi Okinaga³, Ichizo Nishino⁴, Toshinori Nishigaki¹ (1.Osaka Police Hospital, Department of Pediatrics, Osaka, JAPAN, 2.Osaka University Graduate School of Medicine, Department of Pediatrics, Suita, JAPAN, 3.BellLand General Hospital, Department of Pediatrics, Sakai, JAPAN, 4.National Institute of Neuroscience, Department of Neuromuscular Research, Tokyo, JAPAN)

[O-189] Two closely spaced mutations on same allele of the COL6A3 gene results in autosomal dominant UCMD

^○Hideki Shimomura¹, Tomoko Lee¹, Masaaki Matsumoto², Hiroyuki Awano², Kyoko Itoh³, Ichizo Nishino⁴, Yasuhiro Takeshima¹ (1.Department of Pediatrics, Hyogo College of Medicine, Nishinomiya, Japan., 2.Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan, 3.Department of Pathology and Applied Neurobiology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan, 4.Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan)

[O-190] Usefulness of cardiomagnetic resonance imaging in a patient with Emery-Dreifuss muscular dystrophy

^○Hirokuni Yamazawa¹, Atsuhito Takeda¹, Gaku Izumi¹, Osamu Sasaki¹, Jiro Abe¹, Daisuke Sasaki¹, Hideaki Shiraishi¹, Ichizo Nishino² (1.Department of Pediatrics, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Hokkaido, Japan, 2.Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan)

[O-191] The clinical features of Type 1 fiber predominance in children

^○Riyo Ueda¹, Akihiko Ishiyama^1,2, Michio Inoue^1,2, Eri Takeshita¹, Yuko Motohashi¹, Takashi Saito¹, Hirohumi Komaki¹, Eiji Nakagawa¹, Kenji Sugai¹, Masayuki Sasaki¹, Atsuko Nishikawa², Ichizo Nishino² (1.The Department of Pediatric neurology, National Center of Neurology and Psychiatry, Tokyo, Japan, 2.Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan)

[O-192] Peliosis hepatis in myotubular myopathy without abnormal ultrasound findings

^○Tatsuya Fukasawa¹, Anna Shiraki¹, Sho Narahara¹, Tetsuo Kubota¹, Tamiko Negoro^1,2 (1.Department of Pediatrics, Anjo Kosei Hospital, Aichi, Japan, 2.Department of Clinical Psychology, Faculty of Child Development, Nihon Fukushi University, Aichi, Japan)

[O-193] The clinical course and treatment approach in 2 patients with congenital myasthenic syndrome

^○Kumiko Ishiguro¹, Keiko Ishigaki¹, Takatoshi Sato¹, Minobu Shichiji¹, Terumi Murakami^1,2, Yoshiteru Azuma³, Makiko Ohsawa¹, Kinji Ohno³, Satoru Nagata¹ (1.Department of Pediatrics, Tokyo Women's Medical University, School of Medici ne, Tokyo, Japan, 2.Department of Neurology, Higashisaitama National Hospital, Japan., 3.Nagoya University Graduate School of Medicine Integrated Functional Molecular Medicine for Neuronal and Neoplastic disorders)

[O-194] High carbohydrate frequent meals and ketogenic diet for glycogen storage disease 3

^○Tokiko Fukuda¹, Tomoko Matsubayashi¹, Takuya Hiraide¹, Taijyu Hayashi¹, Rei Urushibata¹, Hideo Sugie² (1.Department of Pediatrics, Hamamatsu University School of Medicine, Shizuoka,Japan, 2.Faculty of health and Medical Sciences,Tokoha Univercity, Hamamatsu, Japan)