Myoclonus epilepsy and ragged-red fibers: blood mitochondrial DNA heteroplasmy in affected and asymptomatic members of a family.

doi:10.1111/j.1600-0404.1993.tb05368.x

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Article

Myoclonus epilepsy and ragged-red fibers: blood mitochondrial DNA heteroplasmy in affected and asymptomatic members of a family.

Acta neurologica Scandinavica - 1 Dec 1993

Piccolo G, Focher F, Verri A, Spadari S, Banfi P, Gerosa E, Mazzarello P

Abstract excerpt

By a rapid PCR-based method to assess the 8344 mtDNA mutation associated with MERRF disease, we have studied DNA from blood samples of 10 individuals belonging to a family spanning four generations in which one patient showed the complete MERRF phenotype, three other members were less severely affected, while the remaining were unaffected. The percentage of mutant mtDNA was quantified by laser-densitometric...

Topics

Adolescent
Adult
Age of Onset
Aged
Base Sequence
Child
DNA, Mitochondrial
Electrophoresis, Agar Gel
Female
Gene Amplification
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

MERRF Syndrome

Male

Middle Aged

Molecular Sequence Data

Pedigree

Phenotype

Point Mutation

Source

Open in PubMed

Identifiers

PMID: 8116340
DOI: 10.1111/j.1600-0404.1993.tb05368.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8116340-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Myoclonus epilepsy and ragged-red fibers: blood mitochondrial DNA heteroplasmy in affected and asymptomatic members of a family.PMID 8116340Read ↗

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

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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 ↗

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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 ↗

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 ↗

The 8,344 mutation in mitochondrial DNA: a comparison between the proportion of mutant DNA and clinico-pathologic findings.Semantic proximity Read ↗

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