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A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes.
Kato, Hideki; Kokunai, Yosuke; Dalle, Carine; Kubota, Tomoya; Madokoro, Yuta; Yuasa, Hiroyuki; Uchida, Yuto; Ikeda, Tomomasa; Mochizuki, Hideki; Nicole, Sophie; Fontaine, Bertrand; Takahashi, Masanori P; Mitake, Shigehisa.
Afiliação
  • Kato H; Department of Neurology, Tosei General Hospital, Japan.
  • Kokunai Y; Department of Neurology, Osaka University Graduate School of Medicine, Japan; INSERM U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière - ICM and National Reference Center for Muscular Channelopathies, University Hospital Pitié-Sal
  • Dalle C; INSERM U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière - ICM and National Reference Center for Muscular Channelopathies, University Hospital Pitié-Salpêtrière, France.
  • Kubota T; Department of Neurology, Osaka University Graduate School of Medicine, Japan; Department of Biochemistry and Molecular Biology, The University of Chicago, United States; Department of Functional Diagnostic Science, Osaka University Graduate School of Medicine, Japan.
  • Madokoro Y; Department of Neurology, Tosei General Hospital, Japan.
  • Yuasa H; Department of Neurology, Tosei General Hospital, Japan.
  • Uchida Y; Department of Neurology, Tosei General Hospital, Japan.
  • Ikeda T; Department of Neurology, Tosei General Hospital, Japan.
  • Mochizuki H; Department of Neurology, Osaka University Graduate School of Medicine, Japan.
  • Nicole S; INSERM U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière - ICM and National Reference Center for Muscular Channelopathies, University Hospital Pitié-Salpêtrière, France.
  • Fontaine B; INSERM U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière - ICM and National Reference Center for Muscular Channelopathies, University Hospital Pitié-Salpêtrière, France.
  • Takahashi MP; Department of Neurology, Osaka University Graduate School of Medicine, Japan; Department of Functional Diagnostic Science, Osaka University Graduate School of Medicine, Japan. Electronic address: mtakahas@neurol.med.osaka-u.ac.jp.
  • Mitake S; Department of Neurology, Tosei General Hospital, Japan.
J Neurol Sci ; 369: 254-258, 2016 Oct 15.
Article em En | MEDLINE | ID: mdl-27653901
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Canais de Cloreto / Canal de Sódio Disparado por Voltagem NAV1.4 / Mutação / Miotonia Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Canais de Cloreto / Canal de Sódio Disparado por Voltagem NAV1.4 / Mutação / Miotonia Idioma: En Ano de publicação: 2016 Tipo de documento: Article