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

Multiplex MALDI-TOF MS detection of mitochondrial variants in Brazilian patients with hereditary optic neuropathy.

Molecular vision - 1 Jan 2016

Miranda Paulo Maurício do Amôr Divino, Matilde da Silva-Costa Sueli, Balieiro Juliane Cristina, Fernandes Marcela Scabello Amaral, Alves Rogério Marins, Guerra Andrea Trevas Maciel, Marcondes Ana Maria, Sartorato Edi Lúcia

Abstract excerpt

PURPOSE: Leber hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by bilateral vision loss. More than 95% of LHON cases are associated with one of the three main mtDNA mutations: G11778A, T14484C, and G3460A. The other 5% of cases are due to other rare mutations related to the disease. The aim of this study was to identify the prevalence and spectrum of LHON mtDNA mutations, including the...

Read the complete abstract on PubMed

Topics

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

Share to Brazil
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Genotyping Techniques

Share to Mitochondria

Share to Mitochondrial Diseases

Share to Optic Atrophy, Hereditary, Leber

Share to Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization

Source

Open in PubMed Open full text

Identifiers

PMID: 27582625
PMCID: PMC4982480

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Multiplex MALDI-TOF MS detection of mitochondrial variants in Brazilian patients with hereditary optic neuropathy.PMID 27582625Read ↗

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

Mutation profile of neurodegenerative mitochondriopathy - LHON in Southern India.Semantic proximity Read ↗

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

Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy.Semantic proximity Read ↗

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

Pathogenic mitochondrial DNA mutations and associated clinical features in Korean patients with Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Leber hereditary optic neuropathySemantic proximity Read ↗

Whole Mitochondrial Genome Analysis in Serbian Cases of Leber's Hereditary Optic Neuropathy.Semantic proximity Read ↗

Mitochondrial DNA mutations in Korean patients with Leber's hereditary optic neuropathy.Semantic proximity Read ↗

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