Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state.

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作者： Koya,Kawase ^[1] ; Ichizo,Nishino ^[2] ; Mari,Sugimoto ^[3] ; Takao,Togawa ^[4] ; Tokio,Sugiura ^[4] ; Masanori,Kouwaki ^[3] ; Tetsuya,Kibe ^[5] ; Norihisa,Koyama ^[3] ; Kenji,Yokochi ^[6]

作者单位： Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan; Department of Neonatology and Pediatrics, Nagoya City University Graduate School of Medical Sciences, Nagoya, Aichi, Japan. Electronic address: kkawase@med.nagoya-cu.ac.jp. ^[1] Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan. ^[2] Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan. ^[3] Department of Neonatology and Pediatrics, Nagoya City University Graduate School of Medical Sciences, Nagoya, Aichi, Japan. ^[4] Department of Pediatric Neurology, Seirei-Mikatahara General Hospital, Hamamatsu, Shizuoka, Japan. ^[5] Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan; Department of Pediatric Neurology, Seirei-Mikatahara General Hospital, Hamamatsu, Shizuoka, Japan. ^[6]

关键词 Congenital totally locked-in state Hydrops fetalis KLHL40 Nemaline myopathy