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

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Article

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

American journal of human genetics - 1 Feb 1991

Zeviani M, Amati P, Bresolin N, Antozzi C, Piccolo G, Toscano A, DiDonato S

Abstract excerpt

We devised a rapid PCR-based method to screen for an A----G transition at nucleotide 8344 of the human mitochondrial tRNA(Lys) gene, which was recently reported, by Shoffner and co-workers, to be associated with myoclonus epilepsy and ragged-red fibers (MERRF), a maternally transmitted mitochondr...

Topics

Base Sequence
DNA, Mitochondrial
Epilepsies, Myoclonic
Humans
Lysine
Mitochondria, Muscle
Molecular Sequence Data
Muscles
Mutation
Pedigree
Polymerase Chain Reaction
RNA, Transfer, Lys
Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 1899320
PMCID: PMC1683006

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1899320-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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