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

An unusual family with Leber's hereditary optic neuropathy and facioscapulohumeral muscular dystrophy.

European journal of neurology - 1 May 2005

Chuenkongkaew W L, Lertrit P, Limwongse C, Nilanont Y, Boonyapisit K, Sangruchi T, Chirapapaisan N, Suphavilai R

Abstract excerpt

We performed an observational prospective analysis to study the clinical characteristics as well as a molecular genetic analysis of 17 members of a Thai family who had visual loss and/or muscle weakness. Their blood mitochondrial DNA were examined for the presence of the G11778A Leber's hereditary optic neuropathy (LHON) mutation. Facioscapulohumeral muscular dystrophy (FSHD) DNA analysis was performed in four...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Muscle, Skeletal

Share to Muscular Dystrophy, Facioscapulohumeral

Share to Optic Atrophy, Hereditary, Leber

Share to Pedigree

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 15804271
DOI: 10.1111/j.1468-1331.2004.01060.x

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

An unusual family with Leber's hereditary optic neuropathy and facioscapulohumeral muscular dystrophy.PMID 15804271Read ↗

The unique characteristics of Thai Leber hereditary optic neuropathy: analysis of 30 G11778A pedigrees.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 ↗

Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy.Semantic proximity Read ↗

Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation.Semantic proximity Read ↗

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

Two families with Leber's hereditary optic neuropathy carrying G11778A and T14502C mutations with haplogroup H2a2a1 in mitochondrial DNA.Semantic proximity Read ↗

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

Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Leber's hereditary optic neuropathy. New genetic considerations.Semantic proximity Read ↗

The epidemiology and mutation types of Leber's hereditary optic neuropathy in Thailand.Semantic proximity Read ↗

Case report: A Thai patient with Leber's hereditary optic neuropathy linked to mitochondrial DNA 14484 mutation.Semantic proximity Read ↗

Leber's hereditary optic neuropathy (LHON) in an Apulian cohort of subjects.Semantic proximity Read ↗

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