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

Mild clinical manifestation and unusual recovery upon coenzyme Q₁₀ treatment in the first Chinese Leigh syndrome pedigree with mutation m.10197 G>A.

Molecular medicine reports - 1 Mar 2015

Chen Zhiting, Zhao Zhenhua, Ye Qinyong, Chen Ying, Pan Xiaodong, Sun Bin, Huang Huapin, Zheng An

Abstract excerpt

The Leigh syndrome (LS), characterized by psychomotor retardation, seizures, nystagmus, ophthalmoparesis, optic atrophy, ataxia, dystonia, or respiratory failure, is one of the most severe mitochondrial diseases. In the majority of cases, the disease is fatal and patients die before age 5. Mutation m.10197 G>A was found to relate to the severe phenotype of the Leigh syndrome. Here, we describe the first Chinese...

Read the complete abstract on PubMed

Topics

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

Share to Biopsy
Share to Brain

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA, Mitochondrial

Share to Leigh Disease

Share to Magnetic Resonance Imaging

Share to Muscle, Skeletal

Share to NADH Dehydrogenase

Share to Ubiquinone

Source

Identifiers

PMID: 25384404
DOI: 10.3892/mmr.2014.2911

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mild clinical manifestation and unusual recovery upon coenzyme Q₁₀ treatment in the first Chinese Leigh syndrome pedigree with mutation m.10197 G>A.PMID 25384404Read ↗

A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.Semantic proximity Read ↗

Genetic and biochemical findings in Chinese children with Leigh syndrome.Semantic proximity Read ↗

A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.Semantic proximity Read ↗

[Mitochondrial respiratory chain complex I deficiency due to 10191T>C mutation in ND3 gene].Semantic proximity Read ↗

Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene.Semantic proximity Read ↗

Mutation of mitochondrial DNA G13513A presenting with Leigh syndrome, Wolff-Parkinson-White syndrome and cardiomyopathy.Semantic proximity Read ↗

Mitochondrial Encephalopathy and Optic Neuropathy Due to m.10158 MT-ND3 Complex I Mutation Presenting in an Adult Patient: Case Report and Review of the Literature.Semantic proximity Read ↗

Identification of a novel pathogenic gene, NDUFA3, in Leigh Syndrome through whole exome sequencing.Semantic proximity Read ↗

Identification of a novel m.3955G > A variant in MT-ND1 associated with Leigh syndrome.Semantic proximity Read ↗

A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations.Semantic proximity Read ↗

Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.Semantic proximity Read ↗

Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature.Semantic proximity Read ↗

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