Long QT syndrome type 5 (Q85872): Difference between revisions
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Forma autossômica dominante relativamente incomum de LQTS. Envolve mutações no gene KCNE1, que codifica a subunidade beta MinK do canal de potássio. Em suas raras formas homozigotas, pode levar à síndrome de Jervell e Lange-Nielsen. | |||
| description / en | description / en | ||
This is an autosomal dominant relatively uncommon form of LQTS. It involves mutations in the gene KCNE1, which encodes for the potassium channel beta subunit MinK. In its rare homozygous forms, it can lead to Jervell and Lange-Nielsen syndrome. | |||
Revision as of 11:13, 15 August 2026
This is an autosomal dominant relatively uncommon form of LQTS. It involves mutations in the gene KCNE1, which encodes for the potassium channel beta subunit MinK. In its rare homozygous forms, it can lead to Jervell and Lange-Nielsen syndrome.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1160601997 |
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| English | Long QT syndrome type 5 |
This is an autosomal dominant relatively uncommon form of LQTS. It involves mutations in the gene KCNE1, which encodes for the potassium channel beta subunit MinK. In its rare homozygous forms, it can lead to Jervell and Lange-Nielsen syndrome. |
