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Article

Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ.

American journal of human genetics - 1 May 2008

Barel Ortal, Shorer Zamir, Flusser Hagit, Ofir Rivka, Narkis Ginat, Finer Gal, Shalev Hanah, Nasasra Ahmad, Saada Ann, Birk Ohad S

Abstract excerpt

A consanguineous Israeli Bedouin kindred presented with an autosomal-recessive nonlethal phenotype of severe psychomotor retardation and extrapyramidal signs, dystonia, athetosis and ataxia, mild axial hypotonia, and marked global dementia with defects in verbal and expressive communication skills. Metabolic workup was normal except for mildly elevated blood lactate levels. Brain magnetic resonance imaging (MRI)...

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Topics

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Share to Chromosomes, Human, Pair 5
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electron Transport Complex III

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Share to Genome, Human

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Source

Open in PubMed Open full text

Identifiers

PMID: 18439546
DOI: 10.1016/j.ajhg.2008.03.020
PMCID: PMC2427202

Genes

UQCRQ
UQCRB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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