Sudden unexpected death in asymptomatic infants due to PPA2 variants

Sudden unexpected death in asymptomatic infants due to PPA2 variants

Abstract Background Sudden death in children is a tragic event that often remains unexplained after comprehensive investigation. We report two asymptomatic siblings who died unexpectedly at approximately 1 year of age found to have biallelic (compound heterozygous) variants in PPA2. Methods The inde...

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Bibliographic Details
Main Authors: Colin K. L. Phoon, Matthew Halvorsen, David B. Goldstein, Rachel Rabin, Frank Cecchin, Laura Crandall, Orrin Devinsky
Format: Article
Language:English
Published: Wiley 2020-01-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
cardiomyopathy
mitochondrial disease
myocarditis
PPA2
sudden death
Online Access:https://doi.org/10.1002/mgg3.1008

Internet

https://doi.org/10.1002/mgg3.1008

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