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Las mutaciones en Kir2.1 causan los fenotipos eléctricos episódicos y de desarrollo del síndrome de Andersen

N M Plaster1, R Tawil, M Tristani-Firouzi

  • 1Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA.

Cell
|May 24, 2001
PubMed
Resumen

El síndrome de Andersen, una condición que causa parálisis periódica y problemas cardíacos, está relacionado con mutaciones en el gen KCNJ2, que codifica el canal Kir2.1. Estos defectos genéticos interrumpen la función del canal, lo que lleva a la enfermedad.

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