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Article

Clinical and neuropathological findings in patients with TACO1 mutations.

Neuromuscular disorders : NMD - 1 Nov 2010

Seeger Jürgen, Schrank Bertold, Pyle Angela, Stucka Rolf, Lörcher Ulrich, Müller-Ziermann Solvig, Abicht Angela, Czermin Birgit, Holinski-Feder Elke, Lochmüller Hanns, Horvath Rita

Abstract excerpt

We have recently identified mutations in the translation activator of cytochrome c oxidase 1 (TACO1) gene, leading to cytochrome c oxidase (COX) deficiency. Here, we report the clinical and neuroimaging findings of five members of a big consanguinous family homozygous for c.472insC in TACO1. All...

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Source

Identifiers

PMID: 20727754
DOI: 10.1016/j.nmd.2010.06.017

Genes

TACO1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20727754-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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