Associated Papers
Nonischemic Cardiomyopathy in Adult-Onset PPA2-Deficient Mitochondrial Disease.
Théberge E et al.
Jacc. Case Reports, 2025
40846385 (PubMed )
Supplement: mmc1.xlsx › Sheet1
The crystal structure of yeast mitochondrial type pyrophosphatase provides a model to study pathological mutations in its human ortholog.
Bezpalaya EY et al.
Biochemical and Biophysical Research Communications, 2024
Sudden cardiac death triggered by minimal alcohol consumption in the context of novel PPA2 mutations in 2 unrelated families.
Gómez González C et al.
Gene, 2024
Alcohol-Induced Sudden Cardiac Death in a Teenager With PPA2 Gene Mutations.
Graham S et al.
The American Journal of Forensic Medicine and Pathology, 2023
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Guimier A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Gaining Insight into Mitochondrial Genetic Variation and Downstream Pathophysiology: What Can i(PSCs) Do?
Moreira JD et al.
Genes, 2021
Sudden unexpected death in asymptomatic infants due to PPA2 variants.
Phoon CKL et al.
Molecular Genetics & Genomic Medicine, 2020
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
Guimier A et al.
American Journal of Human Genetics, 2016
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