Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF).

doi:10.1016/0022-510x(91)90148-z

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Article

Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF).

Journal of the neurological sciences - 1 Oct 1991

Seibel P, Degoul F, Bonne G, Romero N, François D, Paturneau-Jouas M, Ziegler F, Eymard B, Fardeau M, Marsac C

Abstract excerpt

Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome is a neuromuscular disorder characterized by mitochondrial myopathy and progressive myoclonus epilepsy. A heteroplasmic A to G transition mutation in the mitochondrial encoded tRNA(Lys) gene at nucleotide pair 8344 has been suggested to be linked to the MERRF-syndrome. We have investigated biochemically and histochemically muscle biopsies and studied the...

Topics

Adolescent
Adult
Aged
Base Sequence
Child
Citrate (si)-Synthase
DNA, Mitochondrial
Electron Transport Complex IV
Epilepsies, Myoclonic
Female
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Middle Aged

Mitochondria, Muscle

Models, Molecular

Molecular Sequence Data

Muscles

Mutation

Source

Open in PubMed

Identifiers

PMID: 1661776
DOI: 10.1016/0022-510x(91)90148-z

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1661776-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF).PMID 1661776Read ↗

A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.Semantic proximity Read ↗

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

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Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families.Semantic proximity Read ↗

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

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