A Novel Mutation in KVLQT1 Is the Molecular Basis of Inherited Long QT Syndrome in a Near-Drowning Patient's Family

@article{Ackerman1998ANM,
  title={A Novel Mutation in KVLQT1 Is the Molecular Basis of Inherited Long QT Syndrome in a Near-Drowning Patient's Family},
  author={Michael J. Ackerman and Jennifer J Schroeder and Rebecca Rialon Berry and Daniel J. Schaid and Co-burn J. Porter and Virginia V. Michels and Stephen N. Thibodeau},
  journal={Pediatric Research},
  year={1998},
  volume={44},
  pages={148-153}
}
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≥0.46 s1/2). We set out to determine the molecular basis of their LQTS. The inherited LQTS represents a collection of genetically… CONTINUE READING

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