The 59th Annual Meeting of the Japanese Society of Child Neurology

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Oral Presentation

neuromuscular disease

[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)

[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)

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