Phenotype-guided whole genome analysis in a patient with genetically elusive long QT syndrome yields a novel TRDN-encoded triadin pathogenetic substrate for triadin knockout syndrome and reveals a novel primate-specific cardiac TRDN transcript.
Background: Triadin knockout syndrome (TKOS) is a rare arrhythmia syndrome caused by recessive null variants in TRDN-encoded cardiac triadin 1. TKOS has presented frequently with cardiac arrest in childhood.Objective: The purpose of this study was to elucidate the underlying genetic mechanism of dis...
| Publicado en: | Heart Rhythm Vol. 17; no. 6; pp. 1017 - 1025 |
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| Autores principales: | , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Elsevier B.V.
Jun2020
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| Acceso en línea: | Ver este registro en EBSCOhost |