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

Genotype-phenotype correlation in the 5703G>A mutation in the tRNA(ASN) gene of mitochondrial DNA.

Journal of inherited metabolic disease - 1 Jan 2003

Vives-Bauza C, Del Toro M, Solano A, Montoya J, Andreu A L, Roig M

Abstract excerpt

The 5703G>A mutation in the tRNA gene of mitochondrial DNA seems to show a tissue-specific phenotype: early age of clinical presentation, progressive external ophthalmoplegia, fatigability and 'extremely thin appearance'. We report a second patient with the same mutation and phenotype.

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to DNA, Mitochondrial
Share to Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Share to Point Mutation

Source

Identifiers

PMID: 14518831
DOI: 10.1023/a:1025133629685

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

Genotype-phenotype correlation in the 5703G>A mutation in the tRNA(ASN) gene of mitochondrial DNA.PMID 14518831Read ↗

The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.Semantic proximity Read ↗

A novel mutation in the mitochondrial tRNA Asn gene associated with a lethal disease.Semantic proximity Read ↗

Late-onset mitochondrial myopathy with dystrophic changes due to a G7497A mutation in the mitochondrial tRNA(Ser(UCN)) gene.Semantic proximity Read ↗

Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study.Semantic proximity Read ↗

A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.Semantic proximity Read ↗

Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation.Semantic proximity Read ↗

Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA(Ser(UCN)) gene.Semantic proximity Read ↗

A new mtDNA-tRNA(Glu) mutation (14728T>C) presenting a late-onset mitochondrial encephalomyopathy.Semantic proximity Read ↗

Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.Semantic proximity Read ↗

Multiple independent occurrence of the 3243 mutation in mitochondrial tRNA(leuUUR) in patients with the MELAS phenotype.Semantic proximity Read ↗

New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.Semantic proximity Read ↗

Maternally inherited cardiomyopathy: a new phenotype associated with the A to G AT nt.3243 of mitochondrial DNA (MELAS mutation).Semantic proximity Read ↗

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