Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.

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

Back to search

Article

Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.

American journal of human genetics - 1 Dec 1992

Larsson N G, Tulinius M H, Holme E, Oldfors A, Andersen O, Wahlström J, Aasly J

Abstract excerpt

We have studied the segregation and manifestations of the tRNA(Lys) A-->G(8344) mutation of mtDNA. Three unrelated patients with myoclonus epilepsy and ragged-red fibers (MERRF) syndrome were investigated, along with 30 of their maternal relatives. Mutated mtDNA was not always found in the offspring of women carrying the tRNA(Lys) mutation. Four women had 10%-33% of mutated mtDNA in lymphocytes, and no mutated...

Topics

Adult
Child
DNA Mutational Analysis
DNA, Mitochondrial
Electron Transport
Epilepsies, Myoclonic
Female
Humans
Infant
Mitochondria, Muscle
Mitochondrial Encephalomyopathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscles

Mutation

Pedigree

Polymerase Chain Reaction

RNA, Transfer, Lys

Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 1463006
PMCID: PMC1682923

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1463006-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.PMID 1463006Read ↗

Distribution and clinical expression of the tRNA(Lys) mutation in mitochondrial DNA in MERRF syndrome.Semantic proximity Read ↗

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).Semantic proximity Read ↗

Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres.Semantic proximity Read ↗

A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).Semantic proximity Read ↗

Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy.Semantic proximity Read ↗

A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA <sup>Lys</sup> gene associated with myoclonus epilepsy with ragged-red fibersSemantic proximity Read ↗

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation.Semantic proximity Read ↗

MERRF: a model disease for understanding the principles of mitochondrial genetics.Semantic proximity Read ↗

Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas.Semantic proximity Read ↗

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.Semantic proximity Read ↗

Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF).Semantic proximity Read ↗

The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene.Semantic proximity Read ↗

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