A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy

Journal of Human Genetics - Tập 47 Số 10 - Trang 0556-0559 - 2002
N. Okamoto1, Yasuhisa Toribe2, Tadashi Nakajima3, Takeshi Okinaga4, Kenji Kurosawa5, Ikuya Nonaka6, Osamu Shimokawa7, Naomichi Matsumoto8
1Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Murodo-cho, Izumi, Osaka 594-1101, Japan. [email protected], , JP
2Division of Pediatric Neurology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan, , JP
3Division of Pediatric Cardiology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan, , JP
4Department of Pediatrics, Osaka University School of Medicine, Osaka, Japan, JP
5Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan, JP
6Department of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan, , JP
7Kyushu Medical Science Nagasaki Laboratory, Nagasaki, Japan, , JP
8Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan, JP

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