Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Short-QT-Syndrom 1

Das Short-QT-Syndrom 1 ist eine autosomal dominante Erkrankung die durch eine Missense-Mutationen an der Codonposition 588 des KCNH2-Gens ausgelöst wird.

Gliederung

Short-QT-Syndrom
Short-QT-Syndrom 1
KCNH2
Short-QT-Syndrom 2
Short-QT-Syndrom 3

Referenzen:

1.

Hong K et al. (2005) Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.

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2.

Gussak I et al. (2000) Idiopathic short QT interval: a new clinical syndrome?

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3.

Gaita F et al. (2003) Short QT Syndrome: a familial cause of sudden death.

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4.

Brugada R et al. (2004) Sudden death associated with short-QT syndrome linked to mutations in HERG.

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5.

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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6.

Bellocq C et al. (2004) Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.

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7.

Gouas L et al. (2005) Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.

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8.

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

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9.

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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10.

OMIM.ORG article

Omim 609620 [^]
Update: 10. Mai 2019