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Article

Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.

European journal of human genetics : EJHG - 1 Jan 2016

Emperador Sonia, Bayona-Bafaluy M Pilar, Fernández-Marmiesse Ana, Pineda Mercedes, Felgueroso Blanca, López-Gallardo Ester, Artuch Rafael, Roca Iria, Ruiz-Pesini Eduardo, Couce María Luz, Montoya Julio

Abstract excerpt

Oxidative phosphorylation dysfunction has been found in many different disorders. This biochemical pathway depends on mitochondrial protein synthesis. Thus, mutations in components of the mitochondrial translation system can be responsible for some of these pathologies. We identified a new homozygous missense mutation in the mitochondrial translation elongation factor Ts gene in a patient suffering from slowly...

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Identifiers

PMID: 27677415
DOI: 10.1038/ejhg.2016.124
PMCID: PMC5159760

Genes

TSFM

Provenance

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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