Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms.

@article{Makita2005CongenitalAS,
  title={Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms.},
  author={Naomasa Makita and Koji Sasaki and W Antoinette Groenewegen and Takashi Yokota and Hisashi Yokoshiki and Tomoaki Murakami and Hiroyuki Tsutsui},
  journal={Heart rhythm},
  year={2005},
  volume={2 10},
  pages={1128-34}
}
BACKGROUND Congenital atrial standstill has been linked to SCN5A. Incomplete penetrance observed in atrial standstill has been attributed in part to the digenic inheritance of polymorphisms in the atrial-specific gap junction connexin 40 (Cx40) in conjunction with an SCN5A mutation. OBJECTIVES The purpose of this study was to determine the clinical and biophysical characteristics of a novel SCN5A mutation identified in a family with atrial standstill. METHODS Family members of an apparently… CONTINUE READING

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Mouse model of SCN 5 A - linked hereditary Lenegre ' s disease . Age - related conduction slowing and myocardial fibrosis

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