Article
A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family.
Pediatric research - 1 Aug 1998
Ackerman M J, Schroeder J J, Berry R, Schaid D J, Porter C J, Michels V V, Thibodeau S N
Abstract excerpt
After identifying a 10-year-old boy with inherited long QT syndrome (LQTS) after a near-drowning that required defibrillation from torsades de pointes, evaluation of first degree relatives revealed a four-generation kindred comprising 26 individuals with four additional symptomatic and eight asymptomatic members harboring an abnormally prolonged QTc (defined as > or =0.46 s1/2). We set out to determine the...
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