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Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms

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タイトル: Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms
著者: Makita, Naomasa 著作を一覧する
Sasaki, Koji 著作を一覧する
Groenewegen, W. Antoinette 著作を一覧する
Yokota, Takashi 著作を一覧する
Yokoshiki, Hisashi 著作を一覧する
Murakami, Tomoaki 著作を一覧する
Tsutsui, Hiroyuki 著作を一覧する
キーワード: Atrial standstill
SCN5A
Connexin 40
Incomplete penetrance
Single nucleotide polymorphism
Sudden death
発行日: 2005年10月
出版者: Heart Rhythm Society Published by Elsevier Inc.
誌名: Heart Rhythm
巻: 2
号: 10
開始ページ: 1128
終了ページ: 1134
出版社 DOI: 10.1016/j.hrthm.2005.06.032
抄録: 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.
Relation (URI): http://www.sciencedirect.com/science/journal/15475271
資料タイプ: article (author version)
URI: http://hdl.handle.net/2115/16956
出現コレクション:雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

提供者: 筒井 裕之

 

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