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Short QT syndrome type 1
- ... of related heart problems. SQTS Genetic Testing Registry: Short QT syndrome type 1 Genetic Testing Registry: Short QT syndrome type 2 Genetic Testing Registry: Short ...
- ... gene can also cause a heart condition called short QT syndrome, which is a type of arrhythmia. In people with this condition, the ... novel gain-of-function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1 currents. Cardiovasc Res. 2012 Mar 15;93(4): ...
- ... Brugada P, Antzelevitch C. Sudden death associated with short-QT syndrome linked to mutations in HERG. Circulation. 2004 Jan 6;109(1):30-5. doi: 10.1161/01.CIR.0000109482. ...
- ... alpha 1C subunit CaV1.2 CCHL1A1 DHPR, alpha-1 subunit MGC120730 voltage-dependent L-type calcium channel alpha 1C subunit voltage-gated calcium channel alpha subunit Cav1.2 ... NCBI Gene ClinVar Bozarth X, Dines ...
- ... 60 percent of all cases of Andersen-Tawil syndrome. When the disorder is caused by mutations in this gene, it is classified as type 1 (ATS1).The KCNJ2 gene provides instructions for making ...
- ... blood efficiently. Some affected individuals also have long QT syndrome, which is a heart condition that causes the ... condition. 3-methylglutaconic aciduria type V DCMA DCMA syndrome DNAJC19 defect MGA type V MGA5 MGCA5 Genetic Testing Registry: 3-methylglutaconic ...
- ... heart's normal rhythm (arrhythmia) known as long QT syndrome. In all affected individuals, muscle GSD 0 impairs ... children with hypoglycemia due to glycogen storage disease type 0. J Clin Invest. 1998 Aug 1;102(3):507-15. doi: 10.1172/JCI2890. ...