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Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report.
Hata, Takanori; Nagasaka, Takamura; Koh, Kishin; Tsuchiya, Mai; Ichinose, Yuta; Nan, Haitian; Shindo, Kazumasa; Takiyama, Yoshihisa.
Afiliação
  • Hata T; Department of Neurology, Faculty of Medicine, University of Yamanashi, 1110, Shimokato, Chuou-city, Yamanashi, 409-3898, Japan.
  • Nagasaka T; Department of Neurology, Faculty of Medicine, University of Yamanashi, 1110, Shimokato, Chuou-city, Yamanashi, 409-3898, Japan. nagat@yamanashi.ac.jp.
  • Koh K; Department of Neurology, Faculty of Medicine, University of Yamanashi, 1110, Shimokato, Chuou-city, Yamanashi, 409-3898, Japan.
  • Tsuchiya M; Department of Neurology, Faculty of Medicine, University of Yamanashi, 1110, Shimokato, Chuou-city, Yamanashi, 409-3898, Japan.
  • Ichinose Y; Department of Neurology, Faculty of Medicine, University of Yamanashi, 1110, Shimokato, Chuou-city, Yamanashi, 409-3898, Japan.
  • Nan H; Department of Neurology, Faculty of Medicine, University of Yamanashi, 1110, Shimokato, Chuou-city, Yamanashi, 409-3898, Japan.
  • Shindo K; Department of Neurology, Faculty of Medicine, University of Yamanashi, 1110, Shimokato, Chuou-city, Yamanashi, 409-3898, Japan.
  • Takiyama Y; Department of Neurology, Faculty of Medicine, University of Yamanashi, 1110, Shimokato, Chuou-city, Yamanashi, 409-3898, Japan.
BMC Neurol ; 19(1): 125, 2019 Jun 12.
Article em En | MEDLINE | ID: mdl-31189464

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Músculo Esquelético / Canal de Sódio Disparado por Voltagem NAV1.4 / Miotonia Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Músculo Esquelético / Canal de Sódio Disparado por Voltagem NAV1.4 / Miotonia Idioma: En Ano de publicação: 2019 Tipo de documento: Article