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Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.

Neurogenetics - 1 May 2013

Nogueira Célia, Barros José, Sá Maria José, Azevedo Luísa, Taipa Ricardo, Torraco Alessandra, Meschini Maria Chiara, Verrigni Daniela, Nesti Claudia, Rizza Teresa, Teixeira João, Carrozzo Rosalba, Pires Manuel Melo, Vilarinho Laura, Santorelli Filippo M

Abstract excerpt

Complex III of the mitochondrial respiratory chain (CIII) catalyzes transfer of electrons from reduced coenzyme Q to cytochrome c. Low biochemical activity of CIII is not a frequent etiology in disorders of oxidative metabolism and is genetically heterogeneous. Recently, mutations in the human tetratricopeptide 19 gene (TTC19) have been involved in the etiology of CIII deficiency through impaired assembly of the...

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PMID: 23532514
DOI: 10.1007/s10048-013-0361-1

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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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