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 boy with muscle weakness, hypercarbia, and the mitochondrial DNA A3243G mutation.

Journal of child neurology - 1 Jan 2006

Saneto Russell P, Bouldin Anthony

Abstract excerpt

The point mutation in the mitochondrial genome tRNA(Leu_ (A3243G) is associated with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS). We report a boy presenting with respiratory compromise and hypercarbia owing to severe muscle weakness. Historically, he demonstrated idiopathic growth hormone deficiency, retarded bone age, and exercise avoidance. Owing to severe...

Read the complete abstract on PubMed

Topics

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

Share to Biopsy
Share to Child
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to MELAS Syndrome

Share to Muscle, Skeletal

Share to Muscle Weakness

Share to Point Mutation

Share to RNA, Transfer, Leu

Source

Identifiers

PMID: 16551459
DOI: 10.1177/08830738060210010601

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

A boy with muscle weakness, hypercarbia, and the mitochondrial DNA A3243G mutation.PMID 16551459Read ↗

Primary mitochondrial diseases.Semantic proximity Read ↗

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

MELAS syndrome associated with both A3243G-tRNALeu mutation and multiple mitochondrial DNA deletions.Semantic proximity Read ↗

When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?Semantic proximity Read ↗

A juvenile case of MELAS with T3271C mitochondrial DNA mutation.Semantic proximity Read ↗

Atypical clinical presentations of the A3243G mutation, usually associated with MELAS.Semantic proximity Read ↗

A case of mitochondrial encephalomyopathy remarkable presenting with refractory shock.Semantic proximity Read ↗

Expanding the clinical spectrum of myopathy, encephalopathy, lactic acidosis, and stroke-like (MELAS) episode: A case with A3243G mitochondrial DNA mutation presenting as MELAS and congenital melanocytic naevi overlap.Semantic proximity Read ↗

An 80-year-old mitochondrial disease patient with A3243G tRNA(Leu(UUR)) gene presenting cardiac dysfunction as the main symptom.Semantic proximity Read ↗

Mitochondrial encephalopathies and myopathies: Our tertiary center's experience.Semantic proximity Read ↗

Heteroplasmic mitochondrial DNA mutation in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.Semantic proximity Read ↗

[Mitochondrial encephalomyelitis, lactic acidosis and cerebrovascular accidents (MELAS) in pediatric age with the A3243G mutation in the tRNALeu(UUR) gene of mitochondrial DNA].Semantic proximity Read ↗

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