Article
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2021
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
Abstract excerpt
PURPOSE: 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 PPA2 variants. METHODS: Synthesis of clinical and molecular data concerning 34 individuals harboring five previously...
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