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タイトル
  • en Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms
作成者
    • en Makita, Naomasa
    • en Sasaki, Koji
    • en Groenewegen, W. Antoinette
    • en Yokota, Takashi
    • en Murakami, Tomoaki
アクセス権 open access
主題
  • Other en Atrial standstill
  • Other en SCN5A
  • Other en Connexin 40
  • Other en Incomplete penetrance
  • Other en Single nucleotide polymorphism
  • Other en Sudden death
  • NDC 493.2
内容注記
  • Abstract en The novel SCN5A mutation L212P was identified in the proband (age 11 years) and his father. The father was in normal sinus rhythm. The proband had no P waves on surface ECG, and his right atrium could not be captured by pacing. The recombinant L212P Na channel showed a large hyperpolarizing shift in both the voltage dependence of activation (WT: −48.1 ± 0.9 mV; L212P: −63.5 ± 1.5 mV; P < .001) and inactivation (WT: −86.6 ± 0.9 mV; L212P: −95.6 ± 0.8 mV; P < .001) and delayed recovery from inactivation. Further screenings for genetic variations that might mitigate L212P dysfunction revealed that the proband, but not his father, carries Cx40 polymorphisms inherited from his asymptomatic mother.
出版者 en Heart Rhythm Society Published by Elsevier Inc.
日付
    Issued2005-10
言語
  • eng
資源タイプ journal article
出版タイプ AM
資源識別子 HDL http://hdl.handle.net/2115/16956
関連
  • URI http://www.sciencedirect.com/science/journal/15475271
  • isVersionOf DOI https://doi.org/10.1016/j.hrthm.2005.06.032
  • PMID 16188595
収録誌情報
    • PISSN 1547-5271
      • en Heart Rhythm
      • 巻2 号10 開始ページ1128 終了ページ1134
ファイル
コンテンツ更新日時 2023-07-26