☆2013年 ミトコンドリア国際シンポジウム☆
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[日時] 平成25年11月6日(水)・7日(木)
[場所] 六本木ヒルズモリタワー49F 六本木アカデミーヒルズ49
「ポスター発表」
The First Case of Infantile-onset Spinocerebellar Ataxia in Japan Caused by Novel Autosomal Recessive Twinkle/C10orf2 Mutations
Susumu ITO1,*, Yoshiko HIRANO1,*, Kazutoshi NAKANO1,2,*,a, Yu-ichi GOTO3, Yui OHTANI1, Shino SHIMADA3, Keiko ISHIGAKI1, Makoto FUNATSUKA1, Hirokazu OGUNI1, Makiko OSAWA1, Satoru NAGATA1
1 Department of Pediatrics, Tokyo Women's Medical University
2 Nakano Children's Clinic
3 Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry
* equally contributor a corresponding author