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

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Article

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

American journal of human genetics - 1 Dec 1992

Silvestri G, Moraes C T, Shanske S, Oh S J, DiMauro S

Abstract excerpt

Myoclonic epilepsy with ragged-red fibers (MERRF) has been associated with an A--G transition at mtDNA nt 8344, within a conserved region of the tRNA(Lys) gene. Although the 8344 mutation is highly prevalent in patients with MERRF, it is not observed in 10%-20% of the cases, suggesting genetic heterogeneity. We have sequenced the tRNA(Lys) gene of five MERRF patients lacking the common 8344 mutation. One of these...

Topics

Adult
Animals
Base Sequence
DNA Mutational Analysis
DNA, Mitochondrial
Epilepsies, Myoclonic
Female
Humans
Male
Mitochondrial Encephalomyopathies
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Nucleic Acid Conformation

Pedigree

Polymorphism, Restriction Fragment Length

RNA, Transfer, Lys

Sequence Homology, Nucleic Acid

Source

Open in PubMed Open full text

Identifiers

PMID: 1361099
PMCID: PMC1682905

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1361099-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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