Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Homozygous COQ9 mutation: a new cause of potentially treatable hereditary spastic paraplegia.

European journal of human genetics : EJHG - 1 Aug 2025

Fontaine Fanny, Labalme Audrey, Laurencin Chloé, Theuriet Julian, Jacquier Arnaud, Lacoste Nicolas, Streichenberger Nathalie, Lesca Gaëtan, Allouche Stéphane

Abstract excerpt

Primary Coenzyme Q10 (CoQ10) deficiencies are a group of clinically heterogenous mitochondrial disorders that result from defects in CoQ10 biosynthesis. Their diagnosis is complicated by the absence of pathognomonic signs and poor genotype-phenotype correlations. Pathogenic variants in the COQ9 gene are a rare cause of CoQ10 deficiency: few cases have been reported, and the clinical presentation was described as...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Ataxia
Share to Fibroblasts

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Mitochondrial Proteins

Share to Mutation

Share to Pedigree

Share to Spastic Paraplegia, Hereditary

Share to Ubiquinone

Source

Open in PubMed Open full text

Identifiers

PMID: 40579432
DOI: 10.1038/s41431-025-01895-w
PMCID: PMC12322268

Genes

COQ9
COQ7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous COQ9 mutation: a new cause of potentially treatable hereditary spastic paraplegia.PMID 40579432Read ↗

A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.Semantic proximity Read ↗

Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.Semantic proximity Read ↗

Clinical spectrum in multiple families with primary COQ10 deficiency.Semantic proximity Read ↗

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.Semantic proximity Read ↗

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9.Semantic proximity Read ↗

Primary coenzyme Q10 deficiency due to COQ8A gene mutations.Semantic proximity Read ↗

A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation.Semantic proximity Read ↗

A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.Semantic proximity Read ↗

Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.Semantic proximity Read ↗

COQ7 splice site variant causing a spastic paraparesis phenotype in siblings.Semantic proximity Read ↗

Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype.Semantic proximity Read ↗

Clinical syndromes associated with Coenzyme Q10 deficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.