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Article

Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

Neurology - 1 Jun 1993

Silvestri G, Ciafaloni E, Santorelli F M, Shanske S, Servidei S, Graf W D, Sumi M, DiMauro S

Abstract excerpt

We looked for the A-->G transition at position 8344 of mtDNA in 150 patients, most of them with diagnosed or suspected mitochondrial disease, to assess the specificity of this mutation for the MERRF phenotype, to define the clinical spectrum associated with the mutation, and to study the relationship between percentage of mutation in muscle and clinical severity. Our results confirm the high correlation between...

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Identifiers

PMID: 8170567
DOI: 10.1212/wnl.43.6.1200

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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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