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Article

Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations.

American journal of human genetics - 1 Dec 2006

López Luis Carlos, Schuelke Markus, Quinzii Catarina M, Kanki Tomotake, Rodenburg Richard J T, Naini Ali, Dimauro Salvatore, Hirano Michio

Abstract excerpt

Coenzyme Q(10) (CoQ(10)) is a vital lipophilic molecule that transfers electrons from mitochondrial respiratory chain complexes I and II to complex III. Deficiency of CoQ(10) has been associated with diverse clinical phenotypes, but, in most patients, the molecular cause is unknown. The first defect in a CoQ(10) biosynthetic gene, COQ2, was identified in a child with encephalomyopathy and nephrotic syndrome and...

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Source

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Identifiers

PMID: 17186472
DOI: 10.1086/510023
PMCID: PMC1698707

Genes

PDSS2
COQ2

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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Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations.PMID 17186472Read ↗

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