![Důležité termíny](https://cdn.muni.cz/media/3633704/image_2.jpg?mode=crop¢er=0.5,0.5&rnd=133572412150000000&heightratio=0.5&width=278)
Informace o publikaci
Targeted resequencing of genes associated with long QT syndrome in Czech patients: two newly identified likely pathogenic variants in previously investigated patient with negative results
Autoři | |
---|---|
Rok publikování | 2019 |
Druh | Konferenční abstrakty |
Fakulta / Pracoviště MU | |
Citace | |
Popis | Long QT syndrome (LQTS) is a hereditary arrhythmic syndrome characterized by abnormal prolongation of QT interval, increased risk of malignant ventricular arrhythmias and sudden death. With the prevalence 1:2000 it is the most often diagnosed arrhythmogenic disorder. At least 15 LQTS-related genes have been identified so far, nevertheless 75% of mutations are found in 3 major genes (KCNQ1, KCNH2 and SCN5A). Here we report identification of likely pathogenic variants in patient previously investigated with negative results. |
Související projekty: |