A more severe phenotype for homozygous as compared to compound heterozygous JLNS cases was suggested in this limited material, but did not reach statistical significance (syncope 100% vs. 57%, p = 0.077; QTc 622 ± 64 ms vs. 550 ± 45 ms, p = 0.089).
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Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families.
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0.0770
0.0770