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Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community
Journal article   Open access   Peer reviewed

Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community

David J. Tester, Hannah M. Bombei, Kristi K. Fitzgerald, John R. Giudicessi, Beth A. Pitel, Erik C. Thorland, Barbara G. Russell, Samantha K. Hamrick, C. S. John Kim, Carla M. Haglund-Turnquist, …
JAMA cardiology, Vol.5(3), pp.13-18
01/08/2020
DOI: 10.1001/jamacardio.2019.5400
PMCID: PMC6990654
PMID: 31913406
url
https://doi.org/10.1001/jamacardio.2019.5400View
Published (Version of record) Open Access

Abstract

This study investigates the underlying cause of multiple sudden deaths and sudden cardiac arrests that occurred in children of 2 large Amish families.
Brief Report Online First

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