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Article

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.

Nature genetics - 1 Nov 2008

Cízková Alena, Stránecký Viktor, Mayr Johannes A, Tesarová Markéta, Havlícková Vendula, Paul Jan, Ivánek Robert, Kuss Andreas W, Hansíková Hana, Kaplanová Vilma, Vrbacký Marek, Hartmannová Hana, Nosková Lenka, Honzík Tomás, Drahota Zdenek, Magner Martin, Hejzlarová Katerina, Sperl Wolfgang, Zeman Jirí, Houstek Josef, Kmoch Stanislav

Abstract excerpt

We carried out whole-genome homozygosity mapping, gene expression analysis and DNA sequencing in individuals with isolated mitochondrial ATP synthase deficiency and identified disease-causing mutations in TMEM70. Complementation of the cell lines of these individuals with wild-type TMEM70 restore...

Read the complete abstract on PubMed

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Source

Identifiers

PMID: 18953340
DOI: 10.1038/ng.246

Genes

TMEM70

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18953340-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.PMID 18953340Read ↗

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