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A novel mutation in FGD4 causes Charcot-Marie-Tooth disease type 4H with cranial nerve involvement.
Kondo, Daisuke; Shinoda, Koji; Yamashita, Ken-Ichiro; Yamasaki, Ryo; Hashiguchi, Akihiro; Takashima, Hiroshi; Kira, Jun-Ichi.
Afiliación
  • Kondo D; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Japan.
  • Shinoda K; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Japan.
  • Yamashita KI; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Japan.
  • Yamasaki R; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Japan.
  • Hashiguchi A; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan.
  • Takashima H; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan.
  • Kira JI; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Japan. Electronic address: kira@neuro.med.kyushu-u.ac.jp.
Neuromuscul Disord ; 27(10): 959-961, 2017 Oct.
Article en En | MEDLINE | ID: mdl-28847448
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Proteínas de Microfilamentos / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies Límite: Aged / Humans / Male Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2017 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Proteínas de Microfilamentos / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies Límite: Aged / Humans / Male Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2017 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido