Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Short-QT-Syndrom 3

Das Short-QT-Syndrom 3 ist eine autosomal dominante Erkrankung die durch eine Missense-Mutationen an der Codonposition 172 des KCNJ2-Gens ausgelöst wird.

Gliederung

Short-QT-Syndrom
Short-QT-Syndrom 1
Short-QT-Syndrom 2
Short-QT-Syndrom 3
KCNJ2

Referenzen:

1.

Priori SG et. al. (2005) A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene.

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2.

Schimpf R et. al. (2005) Short QT syndrome.

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3.

Moreno C et. al. (2015) A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome.

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