Article
Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome.
The Journal of biological chemistry - 19 Dec 2003
Bendahhou Saïd, Donaldson Matthew R, Plaster Nikki M, Tristani-Firouzi Martin, Fu Ying-Hui, Ptácek Louis J
Abstract excerpt
Andersen-Tawil syndrome is a skeletal and cardiac muscle disease with developmental features caused by mutations in the inward rectifier K+ channel gene KCNJ2. Patients harboring these mutations exhibit extremely variable expressivities. To explore whether these mutations can be correlated with a specific patient phenotype, we expressed both wild-type (WT) and mutant genes cloned into a bi-cistronic vector....
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