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 novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy.

European journal of human genetics : EJHG - 1 May 2013

Roos Sara, Darin Niklas, Kollberg Gittan, Andersson Grönlund Marita, Tulinius Mar, Holme Elisabeth, Moslemi Ali-Reza, Oldfors Anders

Abstract excerpt

We report a mutation in the anticodon of the tRNA(Arg) gene (m.10437 G>A), resulting in an anticodon swap from GCU to ACU, which is the anticodon of tRNA(Trp), in a boy with mitochondrial encephalomyopathy. Enzyme histochemical analysis of muscle tissue and biochemical analysis of isolated muscle mitochondria demonstrated cytochrome c oxidase (COX) deficiency. Restriction fragment length polymorphism analysis...

Read the complete abstract on PubMed

Topics

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

Share to Anticodon
Share to Base Pairing

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

Share to Cell Respiration

Share to Cytochrome-c Oxidase Deficiency

Share to Histological Techniques

Share to Mitochondrial Encephalomyopathies

Share to Muscle, Skeletal

Share to Sweden

Source

Open in PubMed Open full text

Identifiers

PMID: 22781096
DOI: 10.1038/ejhg.2012.153
PMCID: PMC3641373

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 novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy.PMID 22781096Read ↗

A mitochondrial tRNA anticodon swap associated with a muscle disease.Semantic proximity Read ↗

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

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

Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation.Semantic proximity Read ↗

Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene.Semantic proximity Read ↗

Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNA(Asn) gene.Semantic proximity Read ↗

Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA.Semantic proximity Read ↗

A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy.Semantic proximity Read ↗

The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome.Semantic proximity Read ↗

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

Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.Semantic proximity Read ↗

The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study.Semantic proximity Read ↗

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