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

An enigmatic pedigree of variable presentations of optic neuropathy due to mitochondrial-ND6 mutation.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Oct 2024

Gomathy Saranya B, Das Animesh, Singh Rajesh Kumar, Vibha Deepti, Tripathi Manjari

Abstract excerpt

No abstract is available from the source.

Topics

Humans
Pedigree
Male
Mutation
Female
Optic Nerve Diseases
Adult
NADH Dehydrogenase
Middle Aged

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 38822915
DOI: 10.1007/s10072-024-07629-y

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An enigmatic pedigree of variable presentations of optic neuropathy due to mitochondrial-ND6 mutation.PMID 38822915Read ↗

Visual Recovery in Leber Hereditary Optic Neuropathy From a Rare mt.14568 Mutation on ND6 Gene.Semantic proximity Read ↗

Leber Hereditary Optic Neuropathy in a Family of Carriers of MT-ND5 m.13042G>T (A236S) Novel Variant.Semantic proximity Read ↗

Novel MT-ND5 gene mutation identified in Leber's hereditary optic neuropathy patient using mitochondrial genome sequencing.Semantic proximity Read ↗

Leber hereditary optic neuropathy-new insights and old challenges.Semantic proximity Read ↗

A Review of Mitochondrial Optic Neuropathies: From Inherited to Acquired FormsSemantic proximity Read ↗

Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Leber's Hereditary Optic Neuropathy (LHON) with 14484/ND6 mutation in a North African patientSemantic proximity Read ↗

A Typical Case Presentation with Spontaneous Visual Recovery in Patient Diagnosed with Leber Hereditary Optic Neuropathy due to Rare Point Mutation in MT-ND4 Gene (m.11253T>C) and Literature Review.Semantic proximity Read ↗

Fifteen novel mutations in the mitochondrial NADH dehydrogenase subunit 1, 2, 3, 4, 4L, 5 and 6 genes from Iranian patients with Leber's hereditary optic neuropathy (LHON).Semantic proximity Read ↗

Leber's hereditary optic neuropathy: Update on the novel genes and therapeutic options.Semantic proximity Read ↗

Leber's Hereditary Optic Neuropathy is Associated with Compound Primary Mutations of Mitochondrial ND1 m.3635G > A and ND6 m.14502 T > C.Semantic proximity Read ↗

Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms.Semantic proximity Read ↗

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