Associated Papers
Acute heart failure in adulthood as the first manifestation of a homozygous pyrophosphatase 2 variant, expanding the phenotypic spectrum: a case report.
Marrero Negrín N et al.
European Heart Journal. Case Reports, 2025
Nonischemic Cardiomyopathy in Adult-Onset PPA2-Deficient Mitochondrial Disease.
Théberge E et al.
Jacc. Case Reports, 2025
40846385 (PubMed )
Supplement: mmc1.xlsx › Sheet1
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
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
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