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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...

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Identifiers

PMID: 1361099
PMCID: PMC1682905

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Source receipt: pubmed, retrieved 7 Sept 2026.

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