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

Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency.

Genes & genomics - 1 Jun 2022

Tang Xiaojun, Xu Wuhen, Song Xiaozhen, Ye Haiyun, Ren Xiang, Yang Yongchen, Zhang Hong, Wu Shengnan, Lan Xiaoping

Abstract excerpt

BACKGROUND: Mitochondrial complex I deficiency (MCID) is the most common biochemical defect identified in childhood with mitochondrial diseases, mainly including Leigh syndrome, encephalopathy, macrocephaly with progressive leukodystrophy, hypertrophic cardiomyopathy and myopathy. OBJECTIVE: To identify genetic cause in a patient with early onset autosomal recessive MCID. METHODS: Trio whole-exome sequencing was...

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 Leigh Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondrial Diseases

Share to Mutation

Source

Identifiers

PMID: 35482246
DOI: 10.1007/s13258-022-01260-x

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency.PMID 35482246Read ↗

Identification of a novel m.3955G > A variant in MT-ND1 associated with Leigh syndrome.Semantic proximity Read ↗

A Leigh syndrome caused by compound heterozygous mutations on NDUFAF5 induce early infant death: A case report.Semantic proximity Read ↗

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

A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome.Semantic proximity Read ↗

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

Emerging Roles of NDUFS8 Located in Mitochondrial Complex I in Different Diseases.Semantic proximity Read ↗

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

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

Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.Semantic proximity Read ↗

Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C.Semantic proximity Read ↗

Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.Semantic proximity Read ↗

Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.Semantic proximity Read ↗

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