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

MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.

Journal of neurology, neurosurgery, and psychiatry - 1 Oct 1998

Hanna M G, Nelson I P, Morgan-Hughes J A, Wood N W

Abstract excerpt

OBJECTIVES: To define the molecular genetic basis of the MELAS phenotype in five patients without any known mutation of mitochondrial DNA. METHODS: Systematic automated mitochondrial DNA sequencing of all mitochondrial transfer RNA and cytochrome c oxidase genes was undertaken in five patients who had the MELAS phenotype. RESULTS: A novel heteroplasmic mitochondrial DNA mutation was identified in the transfer RNA...

Read the complete abstract on PubMed

Topics

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

Share to DNA, Mitochondrial
Share to DNA Primers
Share to MELAS Syndrome

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

Share to Phenotype

Share to Phenylalanine

Share to Point Mutation

Share to Polymerase Chain Reaction

Share to RNA, Transfer, Amino Acid-Specific

Source

Open in PubMed Open full text

Identifiers

PMID: 9771776
DOI: 10.1136/jnnp.65.4.512
PMCID: PMC2170312

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

MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.PMID 9771776Read ↗

MELAS syndrome: a mitochondrially inherited disorder.Semantic proximity Read ↗

Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation).Semantic proximity Read ↗

Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.Semantic proximity Read ↗

Clinical spectrum of the MELAS mutation in a large pedigree.Semantic proximity Read ↗

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

A specific point mutation in the mitochondrial genome of Caucasians with MELAS.Semantic proximity Read ↗

MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes.Semantic proximity Read ↗

Correlation between clinical and molecular features in two MELAS families.Semantic proximity Read ↗

A novel mitochondrial transfer RNA proline mutation.Semantic proximity Read ↗

Novel mitochondrial transfer RNA(Phe) gene mutation associated with late-onset neuromuscular disease.Semantic proximity Read ↗

Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNA(Leu) (UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies.Semantic proximity Read ↗

A novel mutation in the mitochondrial MT-ND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues.Semantic proximity Read ↗

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