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 tRNA(Ala) mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy.

Journal of medical genetics - 1 Oct 2003

Horváth R, Lochmüller H, Scharfe C, Do B H, Oefner P J, Müller-Höcker J, Schoser B G, Pongratz D, Auer D P, Jaksch M

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Apoptosis
Share to Cell Line
Share to Genetic Predisposition to Disease
Share to Mitochondria

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

Share to Mitochondrial Myopathies

Share to Muscle, Skeletal

Share to Myoblasts, Skeletal

Share to Myotonic Dystrophy

Source

Open in PubMed Open full text

Identifiers

PMID: 14569122
DOI: 10.1136/jmg.40.10.752
PMCID: PMC1735288

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 tRNA(Ala) mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy.PMID 14569122Read ↗

The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy.Semantic proximity Read ↗

A mitochondrial myopathy-associated tRNASer(UCN) 7453G>A mutation alters tRNA metabolism and mitochondrial function.Semantic proximity Read ↗

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

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

Mitochondrial tRNA mutations: clinical and functional perturbations.Semantic proximity Read ↗

Mitochondrial leucine tRNA mutation in a mitochondrial encephalomyopathy.Semantic proximity Read ↗

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

Molecular investigations on tRNAs involved in human mitochondrial disorders.Semantic proximity Read ↗

Pure myopathy associated with a novel mitochondrial tRNA gene mutation.Semantic proximity Read ↗

A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy.Semantic proximity Read ↗

Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.Semantic proximity Read ↗

The molecular pathology of pathogenic mitochondrial tRNA variants.Semantic proximity Read ↗

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