Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.

doi:10.1016/j.ajhg.2014.08.003

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Article

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.

American journal of human genetics - 4 Sept 2014

Melchionda Laura, Haack Tobias B, Hardy Steven, Abbink Truus E M, Fernandez-Vizarra Erika, Lamantea Eleonora, Marchet Silvia, Morandi Lucia, Moggio Maurizio, Carrozzo Rosalba, Torraco Alessandra, Diodato Daria, Strom Tim M, Meitinger Thomas, Tekturk Pinar, Yapici Zuhal, Al-Murshedi Fathiya, Stevens René, Rodenburg Richard J, Lamperti Costanza, Ardissone Anna, Moroni Isabella, Uziel Graziella, Prokisch Holger, Taylor Robert W, Bertini Enrico, van der Knaap Marjo S, Ghezzi Daniele, Zeviani Massimo

Abstract excerpt

Cytochrome c oxidase (COX) deficiency is a frequent biochemical abnormality in mitochondrial disorders, but a large fraction of cases remains genetically undetermined. Whole-exome sequencing led to the identification of APOPT1 mutations in two Italian sisters and in a third Turkish individual pre...

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Identifiers

PMID: 25175347
DOI: 10.1016/j.ajhg.2014.08.003
PMCID: PMC4157140

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25175347-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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