☆2013年　ミトコンドリア国際シンポジウム☆

[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