A Novel mutation L619F in the cardiac Na
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Xander H.T. Wehrens; Tom Rossenbacker; Roselie J. Jongbloed; Marc Gewillig; Hein
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Article
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2003
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John Wiley and Sons
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English
⚖ 327 KB
Congenital long QT syndrome type 3 (LQT3) is caused by mutations in the gene SCN5A encoding the alpha-subunit of the cardiac Na(+) channel (Nav1.5). Functional studies of SCN5A mutations in the linker between domains III and IV, and more recently the C-terminus, have been shown to alter inactivation