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

Prevalence of primary mutations in Leber hereditary optic neuropathy: A five-year report from a tertiary eye care center in India.

Molecular vision - 1 Jan 2021

Sundaramurthy Srilekha, Selvakumar Ambika, Dharani Vidhya, Soumittra Nagasamy, Mani Jayaprakash, Thirumalai Karthiyayini, Periyasamy Porkodi, Mathavan Sinnakaruppan, Sripriya Sarangapani

Abstract excerpt

PURPOSE: Genetic testing for primary mutations m.3460G>A, m.11778G>A, and m.14484T>C in ND1, ND4, and ND6 genes of mitochondrial DNA is the recommended assay for Leber hereditary optic neuropathy (LHON; OMIM 535000). This report discusses the outcome of molecular genetic screening for these three primary mutations in suspected LHON cases in India. METHODS: Two hundred and seventy-eight unrelated presumed LHON...

Topics

Adolescent
Adult
Asian People
Child
Child, Preschool
DNA, Mitochondrial
Humans
Middle Aged
Mutation
Optic Atrophy, Hereditary, Leber

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prevalence

Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 35035206
PMCID: PMC8711579

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-35035206-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 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

Prevalence of primary mutations in Leber hereditary optic neuropathy: A five-year report from a tertiary eye care center in India.PMID 35035206Read ↗

Identification of novel mitochondrial mutations in Leber's hereditary optic neuropathy.Semantic proximity Read ↗

A hospital-based five-year prospective study on the prevalence of Leber's hereditary optic neuropathy with genetic confirmation.Semantic proximity Read ↗

Analysis of Three Primary mtDNA Mutations in 155 Patients with Leber’s Hereditary Optic NeuropathySemantic 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 ↗

Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population.Semantic proximity Read ↗

[Study on three common mitochondrial DNA mutations in Leber's hereditary optic neuropathy].Semantic proximity Read ↗

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Leber Hereditary Optic Neuropathy in Southwestern Ontario: A Growing List of Mutations.Semantic proximity Read ↗

Long-term screening for primary mitochondrial DNA variants associated with Leber hereditary optic neuropathy: incidence, penetrance and clinical features.Semantic proximity Read ↗

Respiratory Chain Complex I Deficiency in Leber Hereditary Optic Neuropathy: Insights from Ophthalmologic and Molecular Investigations in Tunisia.Semantic proximity Read ↗

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

Analysis of secondary mtDNA mutations in families with Leber's hereditary optic neuropathy: Four novel variants and their association with clinical presentation.Semantic proximity Read ↗

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