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

[A novel frameshift NDUFV1 mutation in a child with the phenotype of optic nerve atrophy].

Nan fang yi ke da xue xue bao = Journal of Southern Medical University - 20 May 2021

Zhang Z, Yuan H, Zhang S

Abstract excerpt

OBJECTIVE: To investigate the pathogenic gene in a child with optic atrophy and analyze the influence of this gene mutation on protein structure. OBJECTIVE: We collected the clinical record of the 13-year-old girl and her relatives. The child received examinations of the visual acuity, visual field, fundus, OCT, visual-evoked potential (VEP) and the nerve system, underwent brain MRI and was followed up for 1...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Atrophy
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electron Transport Complex I

Share to Frameshift Mutation

Share to Optic Atrophy

Share to Optic Nerve

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 34134969
DOI: 10.12122/j.issn.1673-4254.2021.05.22
PMCID: PMC8214960

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

[A novel frameshift NDUFV1 mutation in a child with the phenotype of optic nerve atrophy].PMID 34134969Read ↗

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.Semantic proximity Read ↗

When the Expected Scenario Did Not Occur: A Novel NDUFA12 Mutation Resembling Neuromyelitis Optica Spectrum Disorder.Semantic proximity Read ↗

Recessive variants in mitochondrial complex I nuclear subunits are an underrated cause of optic atrophy.Semantic proximity Read ↗

[Complex I deficiency due to NDUFS8 gene mutation].Semantic proximity Read ↗

[Analysis of NR2F1 gene variant in a child with optic atrophy and global developmental delay].Semantic proximity Read ↗

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

[Neurodevelopmental and Movement Disorder Due to a Mutation in the GNAO1 Gene: A Case Report].Semantic proximity Read ↗

Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.Semantic proximity Read ↗

Genetic and Clinical Investigations of C12orf65 Gene Mutations in Three Chinese Pedigrees.Semantic proximity Read ↗

OPA1 haploinsufficiency due to a novel splicing variant resulting in mitochondrial dysfunction without mitochondrial DNA depletion.Semantic proximity Read ↗

The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: tissue expression and mutation detection.Semantic proximity Read ↗

Whole Genome Sequencing Identifies a Partial Deletion of RTN4IP1 in a Patient With Isolated Optic Atrophy.Semantic proximity Read ↗

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