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Article

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.

Archives of disease in childhood - 1 Apr 2010

Honzík Tomás, Tesarová Markéta, Mayr Johannes A, Hansíková Hana, Jesina Pavel, Bodamer Olaf, Koch Johannes, Magner Martin, Freisinger Peter, Huemer Martina, Kostková Olga, van Coster Rudy, Kmoch Stanislav, Houstêk Josef, Sperl Wolfgang, Zeman Jirí

Abstract excerpt

OBJECTIVE: Mitochondrial disturbances of energygenerating systems in childhood are a heterogeneous group of disorders. The aim of this multi-site survey was to characterise the natural course of a novel mitochondrial disease with ATP synthase deficiency and mutation in the TMEM70 gene. METHODS: Retrospective clinical data and metabolic profiles were collected and evaluated in 25 patients (14 boys, 11 girls) from...

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Source

Identifiers

PMID: 20335238
DOI: 10.1136/adc.2009.168096

Genes

TMEM70

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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