학술논문
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
Document Type
Article
Author
Guimier, Anne; Achleitner, Melanie T.; Moreau de Bellaing, Anne; Edwards, Matthew; de Pontual, Loïc; Mittal, Kirti; Dunn, Kyla E.; Grove, Megan E.; Tysoe, Carolyn J.; Dimartino, Clémantine; Cameron, Jessie; Kanthi, Anil; Shukla, Anju; van den Broek, Florence; Chatterjee, Diptendu; Alston, Charlotte L.; Knowles, Charlotte V.; Brett, Laura; Till, Jan A.; Homfray, Tessa; French, Paul; Spentzou, Georgia; Elserafy, Noha A.; Lichkus, Kate S.; Sankaran, Bindu P.; Kennedy, Hannah L.; George, Peter M.; Kidd, Alexa; Wortmann, Saskia B.; Fisk, Dianna G.; Koopmann, Tamara T.; Rafiq, Muhammad A.; Merker, Jason D.; Parikh, Sumith; Ahimaz, Priyanka; Weintraub, Robert G.; Ma, Alan S.; Turner, Christian; Ellaway, Carolyn J.; Phillips, Liza K.; Thorburn, David R.; Chung, Wendy K.; Kana, Sajel L.; Faye-Petersen, Ona M.; Thompson, Michelle L.; Janin, Alexandre; McLeod, Karen; McGowan, Ruth; McFarland, Robert; Girisha, Katta M.; Morris-Rosendahl, Deborah J.; Hurst, Anna C.E.; Turner, Claire L.S.; Hamilton, Robert M.; Taylor, Robert W.; Bajolle, Fanny; Gordon, Christopher T.; Amiel, Jeanne; Mayr, Johannes A.; Doudney, Kit
Source
Genetics in Medicine; December 2021, Vol. 23 Issue: 12 p2415-2425, 11p
Subject
Language
ISSN
10983600; 15300366
Abstract
Biallelic hypomorphic variants in PPA2, encoding the mitochondrial inorganic pyrophosphatase 2 protein, have been recently identified in individuals presenting with sudden cardiac death, occasionally triggered by alcohol intake or a viral infection. Here we report 20 new families harboring PPA2variants.