Article
Triadin Knockout Syndrome Is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and Is Extremely Rare in the General Population.
Circulation. Genomic and precision medicine - 1 Apr 2020
Clemens Daniel J, Gray Belinda, Bagnall Richard D, Tester David J, Dotzler Steven M, Giudicessi John R, Matthews Emma, Semsarian Christopher, Behr Elijah R, Ackerman Michael J
Abstract excerpt
BACKGROUND: Triadin knockout syndrome (TKOS) is a potentially lethal arrhythmia disorder caused by recessively inherited null variants in TRDN-encoded cardiac triadin. Despite its malignant phenotype, the prevalence of TKOS in sudden infant death syndrome and sudden unexplained death in the young is unknown. METHODS: Exome sequencing was performed on 599 sudden infant death syndrome and 258 sudden unexplained...
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