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

Complex I deficiency and Leigh syndrome through the eyes of a clinician.

EMBO molecular medicine - 6 Nov 2020

Reinson Karit, Õunap Katrin

Abstract excerpt

Mitochondrial complex I deficiency is associated with a wide range of clinical presentations, including Leigh syndrome. Its genetic causes are heterogeneous, with poor genotype-phenotype correlation. It is impossible to identify the genetic defect of complex I deficiency using clinical observation and metabolic/imaging studies alone. As a result, whole-exome sequencing (WES) is increasingly used in clinical work...

Read the complete abstract on PubMed

Topics

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

Share to Electron Transport Complex I
Share to Exome Sequencing
Share to Leigh Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Metabolism, Inborn Errors

Share to Mitochondrial Diseases

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 33124751
DOI: 10.15252/emmm.202013187
PMCID: PMC7645367

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Complex I deficiency and Leigh syndrome through the eyes of a clinician.PMID 33124751Read ↗

Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome.Semantic proximity Read ↗

Molecular basis of Leigh syndrome: a current look.Semantic proximity Read ↗

Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options.Semantic proximity Read ↗

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.Semantic proximity Read ↗

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.Semantic proximity Read ↗

The Path to Precision Medicine in Leigh Syndrome Spectrum: A Four-Decade Chronicle of Genetic Discovery and Targeted Treatment.Semantic proximity Read ↗

Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.Semantic proximity Read ↗

Lip cyanosis as the first symptom of Leigh syndrome associated with mitochondrial complex I deficiency due to a compound heterozygous NDUFS1 mutation: A case report.Semantic proximity Read ↗

Complex I deficiency: clinical features, biochemistry and molecular genetics.Semantic proximity Read ↗

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.Semantic proximity Read ↗

Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report.Semantic proximity Read ↗

The genotype/phenotype conundrum of inherited mitochondrial disorders: Insights from a survey of mtDNA mutations associated with Leigh syndrome in complex I.Semantic proximity Read ↗

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