Variable phenotype expression with a frameshift mutation of the cardiac sodium channel gene SCN5A

Variable phenotype expression with a frameshift mutation of the cardiac sodium channel gene SCN5A

Loss-of-function mutations in the cardiac sodium channel α-subunit gene SCN5A result in multiple inherited arrhythmic syndromes. This case report describes 2 unrelated probands carrying an identical SCN5A frameshift mutation, V1764fsX1786, who exhibited distinct clinical manifestations: progressive...

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Bibliographic Details
Main Authors: Hiroshi Kawakami, MD, Takeshi Aiba, MD, PhD, Tadakatsu Yamada, MD, PhD, Hideki Okayama, MD, PhD, Yukio Kazatani, MD, PhD, Kyoko Konishi, MD, PhD, Ikutaro Nakajima, MD, Koji Miyamoto, MD, Yuko Yamada, MD, Hideo Okamura, MD, Takashi Noda, MD, PhD, Kazuhiro Satomi, MD, PhD, Shiro Kamakura, MD, PhD, Naomasa Makita, MD, PhD, Wataru Shimizu, MD, PhD
Format: Article
Language:English
Published: Wiley 2013-10-01
Series:Journal of Arrhythmia
Subjects:
Progressive cardiac conduction defect
SCN5A
Ventricular fibrillation
Sudden cardiac death
Electrophysiology
Online Access:http://www.sciencedirect.com/science/article/pii/S1880427613000690

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http://www.sciencedirect.com/science/article/pii/S1880427613000690

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