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Article

Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.

Neurology - 19 Aug 2014

Ahola Sofia, Isohanni Pirjo, Euro Liliya, Brilhante Virginia, Palotie Aarno, Pihko Helena, Lönnqvist Tuula, Lehtonen Tanita, Laine Jukka, Tyynismaa Henna, Suomalainen Anu

Abstract excerpt

OBJECTIVE: We report novel defects of mitochondrial translation elongation factor Ts (EFTs), with high carrier frequency in Finland and expand the manifestations of this disease group from infantile cardiomyopathy to juvenile neuropathy/encephalopathy disorders. METHODS: DNA analysis, whole-exome analysis, protein biochemistry, and protein modeling. RESULTS: We used whole-exome sequencing to find the genetic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25037205
DOI: 10.1212/WNL.0000000000000716
PMCID: PMC4150129

Genes

TSFM

Variants

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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