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Article

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.

Brain : a journal of neurology - 1 Jan 2011

Kemp John P, Smith Paul M, Pyle Angela, Neeve Vivienne C M, Tuppen Helen A L, Schara Ulrike, Talim Beril, Topaloglu Haluk, Holinski-Feder Elke, Abicht Angela, Czermin Birgit, Lochmüller Hanns, McFarland Robert, Chinnery Patrick F, Chrzanowska-Lightowlers Zofia M A, Lightowlers Robert N, Taylor Robert W, Horvath Rita

Abstract excerpt

Mutations in several mitochondrial DNA and nuclear genes involved in mitochondrial protein synthesis have recently been reported in combined respiratory chain deficiency, indicating a generalized defect in mitochondrial translation. However, the number of patients with pathogenic mutations is sma...

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Identifiers

PMID: 21169334
DOI: 10.1093/brain/awq320
PMCID: PMC3707321

Genes

TRMU
MRPS16

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21169334-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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