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Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state.
Kawase, Koya; Nishino, Ichizo; Sugimoto, Mari; Togawa, Takao; Sugiura, Tokio; Kouwaki, Masanori; Kibe, Tetsuya; Koyama, Norihisa; Yokochi, Kenji.
Afiliación
  • Kawase K; 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.
  • Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
  • Sugimoto M; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan.
  • Togawa T; Department of Neonatology and Pediatrics, Nagoya City University Graduate School of Medical Sciences, Nagoya, Aichi, Japan.
  • Sugiura T; Department of Neonatology and Pediatrics, Nagoya City University Graduate School of Medical Sciences, Nagoya, Aichi, Japan.
  • Kouwaki M; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan.
  • Kibe T; Department of Pediatric Neurology, Seirei-Mikatahara General Hospital, Hamamatsu, Shizuoka, Japan.
  • Koyama N; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan.
  • Yokochi K; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan; Department of Pediatric Neurology, Seirei-Mikatahara General Hospital, Hamamatsu, Shizuoka, Japan.
Brain Dev ; 37(9): 887-90, 2015 Oct.
Article en En | MEDLINE | ID: mdl-25721947
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cuadriplejía / Miopatías Nemalínicas / Proteínas Musculares / Mutación Límite: Humans / Male / Newborn Idioma: En Revista: Brain Dev Año: 2015 Tipo del documento: Article Pais de publicación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cuadriplejía / Miopatías Nemalínicas / Proteínas Musculares / Mutación Límite: Humans / Male / Newborn Idioma: En Revista: Brain Dev Año: 2015 Tipo del documento: Article Pais de publicación: Países Bajos