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

A whole mitochondrial genome screening in a MELAS patient: a novel mitochondrial tRNA(Val) mutation.

Biochemical and biophysical research communications - 22 Apr 2011

Mezghani Najla, Mnif Mouna, Kacem Maha, Mkaouar-Rebai Emna, Hadj Salem Ikhlass, Kallel Nozha, Charfi Nadia, Abid Mohamed, Fakhfakh Faiza

Abstract excerpt

Mitochondrial encephalopathy, lactic acidosis and strokelike episodes (MELAS) syndrome is a mitochondrial disorder characterized by a wide variety of clinical presentations and a multisystemic organ involvement. In this study, we report a Tunisian girl with clinical features of MELAS syndrome who was negative for the common m.3243A>G mutation, but also for the reported mitochondrial DNA (mtDNA) mutations and...

Read the complete abstract on PubMed

Topics

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

Share to DNA-Directed DNA Polymerase
Share to DNA Polymerase gamma

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

Share to Genome, Mitochondrial

Share to Genome-Wide Association Study

Share to MELAS Syndrome

Share to RNA, Mitochondrial

Share to Sequence Deletion

Source

Identifiers

PMID: 21447323
DOI: 10.1016/j.bbrc.2011.03.094

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A whole mitochondrial genome screening in a MELAS patient: a novel mitochondrial tRNA(Val) mutation.PMID 21447323Read ↗

A novel tRNA(Val) mitochondrial DNA mutation causing MELAS.Semantic proximity Read ↗

MELAS syndrome associated with both A3243G-tRNALeu mutation and multiple mitochondrial DNA deletions.Semantic proximity Read ↗

[Diseases caused by mutations in mitochondrial DNA].Semantic proximity Read ↗

Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study.Semantic proximity Read ↗

MELAS syndrome associated with a new mitochondrial tRNA-Val gene mutation (m.1616A>G).Semantic proximity Read ↗

MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA.Semantic proximity Read ↗

A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).Semantic proximity Read ↗

Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases.Semantic proximity Read ↗

A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).Semantic proximity Read ↗

Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.Semantic proximity Read ↗

A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.Semantic proximity Read ↗

An 80-year-old mitochondrial disease patient with A3243G tRNA(Leu(UUR)) gene presenting cardiac dysfunction as the main symptom.Semantic proximity Read ↗

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