Article
Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms.
Heart rhythm - 1 Oct 2005
Makita Naomasa, Sasaki Koji, Groenewegen W Antoinette, Yokota Takashi, Yokoshiki Hisashi, Murakami Tomoaki, Tsutsui Hiroyuki
Abstract excerpt
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...
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