EF hand-like motif mutations of Nav1.4 C-terminus cause myotonic syndrome by impairing fast inactivation.

Horie, Riho; Kubota, Tomoya; Koh, Jinsoo; Tanaka, Rieko; Nakamura, Yuichiro; Sasaki, Ryogen; Ito, Hidefumi; Takahashi, Masanori P

Horie, Riho; Kubota, Tomoya; Koh, Jinsoo; Tanaka, Rieko; Nakamura, Yuichiro; Sasaki, Ryogen; Ito, Hidefumi; Takahashi, Masanori P.

Afiliação

Horie R; Department of Functional Diagnostic Science, Osaka University Graduate School of Medicine, Yamadaoka, Suita, Osaka, Japan.
Kubota T; Department of Functional Diagnostic Science, Osaka University Graduate School of Medicine, Yamadaoka, Suita, Osaka, Japan.
Koh J; Department of Neurology, Wakayama Medical University, Kimiidera, Wakayama, Wakayama, Japan.
Tanaka R; Nanairo Kodomo Clinic, Fukiage, Wakayama, Wakayama, Japan.
Nakamura Y; Department of Functional Diagnostic Science, Osaka University Graduate School of Medicine, Yamadaoka, Suita, Osaka, Japan.
Sasaki R; Department of Neurology, Kuwana City Medical Center, Kotobukicho, Kuwana, Mie, Japan.
Ito H; Department of Neurology, Wakayama Medical University, Kimiidera, Wakayama, Wakayama, Japan.
Takahashi MP; Department of Functional Diagnostic Science, Osaka University Graduate School of Medicine, Yamadaoka, Suita, Osaka, Japan.

Muscle Nerve ; 61(6): 808-814, 2020 06.

Article em En | MEDLINE | ID: mdl-32129495

Assuntos

Motivos EF Hand/genética; Potenciais da Membrana/fisiologia; Mutação/genética; Transtornos Miotônicos/diagnóstico; Transtornos Miotônicos/genética; Canal de Sódio Disparado por Voltagem NAV1.4/genética; Pré-Escolar; Feminino; Células HEK293; Humanos; Masculino; Pessoa de Meia-Idade; Transtornos Miotônicos/fisiopatologia; Adulto Jovem

Palavras-chave

SCN4A; EF-hand; Nav1.4; fast inactivation; myotonia; skeletal muscle; sodium channel; sudden infant death syndrome

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos Miotônicos / Motivos EF Hand / Canal de Sódio Disparado por Voltagem NAV1.4 / Potenciais da Membrana / Mutação Limite: Adult / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google