A new homozygous mutation of the KCNQ1 gene associated with both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes in two sisters.
Department of Internal Medicine and Cardiology, University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic. jkanovsky@fnbrno.cz
Jan
J
Kanovsky
Tomas
T
Novotny
Jitka
J
Kadlecova
Renata
R
Gaillyova
D000328:Adult; D017147:Defibrillators, Implantable; D005260:Female; D006801:Humans; D029593:Jervell-Lange Nielsen Syndrome / Q000235:genetics* / Q000628:therapy; D051657:KCNQ1 Potassium Channel / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D029597:Romano-Ward Syndrome / Q000235:genetics* / Q000628:therapy; D035781:Siblings
D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human