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

Mitochondrial tRNA genes are hotspots for mutations in a cohort of patients with exercise intolerance and mitochondrial myopathy.

Journal of the neurological sciences - 15 Aug 2017

Lu Yuanyuan, Zhao Danhua, Yao Sheng, Wu Shiwen, Hong Daojun, Wang Qingqing, Liu Jing, Smeitink Jan A M, Yuan Yun, Wang Zhaoxia

Abstract excerpt

OBJECTIVE: Mitochondrial myopathy (MM) is a relatively rare type of mitochondrial disorder characterized by predominant skeletal muscle involvement. Both mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) mutations have been reported as the genetic causes of this disease. Here, we described the clinical and genetic features of a cohort of patients with MM. METHODS: We conducted a retrospective, single center study...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Exercise

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Mitochondrial

Share to Mitochondrial Myopathies

Share to Muscle Weakness

Share to Mutation

Share to RNA, Transfer

Source

Identifiers

PMID: 28716227
DOI: 10.1016/j.jns.2017.05.056

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

Mitochondrial tRNA genes are hotspots for mutations in a cohort of patients with exercise intolerance and mitochondrial myopathy.PMID 28716227Read ↗

Pathology of Adult and Paediatric Mitochondrial MyopathiesSemantic proximity Read ↗

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

Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies.Semantic proximity Read ↗

Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.Semantic proximity Read ↗

A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers.Semantic proximity Read ↗

Exercise Testing, Physical Training and Fatigue in Patients with Mitochondrial Myopathy Related to mtDNA MutationsSemantic proximity Read ↗

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.Semantic proximity Read ↗

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

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

A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance.Semantic proximity Read ↗

Pathogenic mitochondrial DNA mutations in protein-coding genes.Semantic proximity Read ↗

Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene.Semantic proximity Read ↗

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