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

DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients.

International journal of molecular sciences - 15 Dec 2023

Skorczyk-Werner Anna, Tońska Katarzyna, Maciejczuk Aleksandra, Nowomiejska Katarzyna, Korwin Magdalena, Ołdak Monika, Wawrocka Anna, Krawczyński Maciej R

Abstract excerpt

Leber hereditary optic neuropathy (LHON) is a rare disorder causing a sudden painless loss of visual acuity in one or both eyes, affecting young males in their second to third decade of life. The molecular background of the LHON is up to 90%, genetically defined by a point mutation in mitochondrial DNA. Recently, an autosomal recessive form of LHON (LHONAR1, arLHON) has been discovered, caused by biallelic...

Read the complete abstract on PubMed

Topics

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

Share to DNA, Mitochondrial
Share to HSP40 Heat-Shock Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondria

Share to Mutation

Share to Optic Atrophy, Hereditary, Leber

Share to Poland

Share to Rare Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 38139324
DOI: 10.3390/ijms242417496
PMCID: PMC10743999

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

DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients.PMID 38139324Read ↗

Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene.Semantic proximity Read ↗

Expanding the phenotype of DNAJC30-associated Leigh syndrome.Semantic proximity Read ↗

DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.Semantic proximity Read ↗

Autosomal recessive leber hereditary optic neuropathy in a choroideremia carrier. A case report.Semantic proximity Read ↗

An Unusual Presentation of Leber Hereditary Optic Neuropathy-Plus Case Caused by a Novel DNAJC30 Variant.Semantic proximity Read ↗

DNAJC30 biallelic mutations extend mitochondrial complex I-deficient phenotypes to include recessive Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm.Semantic proximity Read ↗

Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation.Semantic proximity Read ↗

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Mitochondrial DNA variation of Leber’s Hereditary Optic Neuropathy (LHON) in Western SiberiaSemantic proximity Read ↗

Leber hereditary optic neuropathy harboring a rare m.12811 T>C mitochondrial DNA mutation.Semantic proximity Read ↗

Mitochondrial DNA variants in a cohort from Argentina with suspected Leber's hereditary optic neuropathy (LHON).Semantic proximity Read ↗

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