- A novel KCNH2 frameshift mutation (c.46delG) associated with high risk of sudden death in a family with congenital long QT syndrome type 2
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Yoo H, Medina N, von Wulffen M, Ciampi N, Paolucci A, Garro H, Principato M, Acunzo R, Carbajales J
- KMID: 2514533
- Int J Arrhythm.
- 2021 Mar;22(1):1.
- doi: 10.1186/s42444-020-00029-1
Background: The congenital long QT syndrome type 2 is caused by mutations in KCNH2 gene that encodes the alpha subunit of potassium channel Kv11.1. The carriers of the pathogenic variant... -
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