Article
Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome.
Circulation - 13 Nov 2007
Van Norstrand David W, Valdivia Carmen R, Tester David J, Ueda Kazuo, London Barry, Makielski Jonathan C, Ackerman Michael J
Abstract excerpt
BACKGROUND: Autopsy-negative sudden unexplained death, including sudden infant death syndrome, can be caused by cardiac channelopathies such as Brugada syndrome (BrS). Type 1 BrS, caused by mutations in the SCN5A-encoded sodium channel, accounts for approximately 20% of BrS. Recently, a novel mutation in the glycerol-3-phosphate dehydrogenase 1-like gene (GPD1-L) disrupted trafficking of SCN5A in a...
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