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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...

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 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 ↗

Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).Semantic proximity Read ↗

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

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

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

A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome.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 ↗

Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA.Semantic proximity Read ↗

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

MERRF-like phenotype associated with a rare mitochondrial trnaile mutation (m.4284 G>A).Semantic proximity Read ↗

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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