Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.

doi:10.1016/j.ajhg.2016.06.027

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Article

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.

American journal of human genetics - 1 Sept 2016

Kennedy Hannah, Haack Tobias B, Hartill Verity, Mataković Lavinija, Baumgartner E Regula, Potter Howard, Mackay Richard, Alston Charlotte L, O'Sullivan Siobhan, McFarland Robert, Connolly Grainne, Gannon Caroline, King Richard, Mead Scott, Crozier Ian, Chan Wandy, Florkowski Chris M, Sage Martin, Höfken Thomas, Alhaddad Bader, Kremer Laura S, Kopajtich Robert, Feichtinger René G, Sperl Wolfgang, Rodenburg Richard J, Minet Jean Claude, Dobbie Angus, Strom Tim M, Meitinger Thomas, George Peter M, Johnson Colin A, Taylor Robert W, Prokisch Holger, Doudney Kit, Mayr Johannes A

Abstract excerpt

We have used whole-exome sequencing in ten individuals from four unrelated pedigrees to identify biallelic missense mutations in the nuclear-encoded mitochondrial inorganic pyrophosphatase (PPA2) that are associated with mitochondrial disease. These individuals show a range of severity, indicating that PPA2 mutations may cause a spectrum of mitochondrial disease phenotypes. Severe symptoms include seizures,...

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Identifiers

PMID: 27523597
DOI: 10.1016/j.ajhg.2016.06.027
PMCID: PMC5011043

Genes

PPA2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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