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
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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