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

Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.

Clinical genetics - 1 Feb 2018

Perrier S, Gauquelin L, Tétreault M, Tran L T, Webb N, Srour M, Mitchell J J, Brunel-Guitton C, Majewski J, Long V, Keller S, Gambello M J, Simons C, Vanderver A, Bernard G

Abstract excerpt

Deficiencies of mitochondrial respiratory chain complex I frequently result in leukoencephalopathy in young patients, and different mutations in the genes encoding its subunits are still being uncovered. We report 2 patients with cystic leukoencephalopathy and complex I deficiency with recessive mutations in NDUFA2, an accessory subunit of complex I. The first patient was initially diagnosed with a primary...

Read the complete abstract on PubMed

Topics

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

Share to Exome
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Leigh Disease

Share to Leukoencephalopathies

Share to Mitochondria

Share to NADH Dehydrogenase

Share to Solute Carrier Family 22 Member 5

Source

Identifiers

PMID: 28857146
DOI: 10.1111/cge.13126

Genes

NDUFA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.PMID 28857146Read ↗

Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.Semantic proximity Read ↗

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

NDUFAF3 variants that disrupt mitochondrial complex I assembly may associate with cavitating leukoencephalopathy.Semantic proximity Read ↗

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

A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies.Semantic proximity Read ↗

A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.Semantic proximity Read ↗

Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival.Semantic proximity Read ↗

Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement.Semantic proximity Read ↗

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

Novel NDUFV1 variant in progressive cavitating leukodystrophy with microcephaly: a case report.Semantic proximity Read ↗

Cystic Leucoencephalopathy in NDUFV1 Mutation.Semantic proximity Read ↗

NDUFS8-Related Leigh Syndrome Mimicking a Leukodystrophy.Semantic proximity Read ↗

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