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

Clinical and molecular features of encephalomyopathy due to the A3302G mutation in the mitochondrial tRNA(Leu(UUR)) gene.

Archives of neurology - 1 Dec 2005

Hutchison Wendy M, Thyagarajan Dominic, Poulton Joanna, Marchington David R, Kirby Denise M, Manji Shehnaaz S M, Dahl Hans-Henrik M

Abstract excerpt

BACKGROUND: The mitochondrial DNA mutation A3302G in the tRNA(Leu(UUR)) gene causes respiratory chain complex I deficiency. The main clinical feature appears to be a progressive mitochondrial myopathy with proximal muscle weakness. OBJECTIVE: To report on clinical and molecular features in 4 novel patients with the A3302G mutation. DESIGN: Case reports. PATIENTS: Four patients (3 of whom are from the same family)...

Read the complete abstract on PubMed

Topics

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

Share to Depressive Disorder
Share to Exercise Tolerance

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Headache

Share to Mitochondrial Encephalomyopathies

Share to Ocular Motility Disorders

Share to Reflex, Abnormal

Share to RNA, Mitochondrial

Share to RNA, Transfer, Leu

Source

Identifiers

PMID: 16344351
DOI: 10.1001/archneur.62.12.1920

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

Clinical and molecular features of encephalomyopathy due to the A3302G mutation in the mitochondrial tRNA(Leu(UUR)) gene.PMID 16344351Read ↗

Fulminant respiratory muscle paralysis, an expanding clinical spectrum of mitochondrial A3243G tRNALeu mutation.Semantic proximity Read ↗

Increased risk for cardiorespiratory failure associated with the A3302G mutation in the mitochondrial DNA encoded tRNALeu(UUR) gene.Semantic proximity Read ↗

MELAS phenotype associated with m.3302A>G mutation in mitochondrial tRNA(Leu(UUR)) gene.Semantic proximity Read ↗

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

A boy with muscle weakness, hypercarbia, and the mitochondrial DNA A3243G mutation.Semantic proximity Read ↗

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

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

Adult presentation of a rare mitochondrial tRNA Val gene mutation-an expanding clinical phenotype.Semantic proximity Read ↗

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

A novel tRNASer(AGY) 12244G > a variant impairs mitochondrial function and presents with classical MELAS phenotype.Semantic proximity Read ↗

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

A novel mutation in the mitochondrial DNA tRNA Leu (UUR) gene associated with late-onset ocular myopathy.Semantic proximity Read ↗

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