Jervell and Lange-Nielsen syndrome: a Norwegian perspective.

@article{Tranebjaerg1999JervellAL,
  title={Jervell and Lange-Nielsen syndrome: a Norwegian perspective.},
  author={Lisbeth Tranebjaerg and J\orn Bathen and Jess Tyson and Maria A. K. Bitner-Glindzicz},
  journal={American journal of medical genetics},
  year={1999},
  volume={89 3},
  pages={137-46}
}
Jervell and Lange-Nielsen syndrome (MIM 220400; JLNS), is a rare form of profound congenital deafness combined with syncopal attacks and sudden death due to prolonged QTc; it is an autosomal recessive trait. After its first description in Norway in 1957, later reports from many other countries have confirmed its occurrence. Nowhere is the prevalence so high as in Norway, where we estimate a prevalence of at least 1:200,000. The KCNQ1 and KCNE1 proteins coassemble in a potassium channel, and… CONTINUE READING
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