Identification of a novel homozygous multi-exon duplication in RYR2 among children with exertion-related unexplained sudden deaths in the Amish community
DJ Tester, HM Bombei, KK Fitzgerald… - JAMA …, 2020 - jamanetwork.com
Importance The exome molecular autopsy may elucidate a pathogenic substrate for sudden
unexplained death. Objective To investigate the underlying cause of multiple sudden deaths
in young individuals and sudden cardiac arrests that occurred in 2 large Amish families.
Design, Setting, and Participants Two large extended Amish families with multiple sudden
deaths in young individuals and sudden cardiac arrests were included in the study. A
recessive inheritance pattern was suggested based on an extended family history of sudden …
unexplained death. Objective To investigate the underlying cause of multiple sudden deaths
in young individuals and sudden cardiac arrests that occurred in 2 large Amish families.
Design, Setting, and Participants Two large extended Amish families with multiple sudden
deaths in young individuals and sudden cardiac arrests were included in the study. A
recessive inheritance pattern was suggested based on an extended family history of sudden …