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

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

Research output: Contribution to journalArticle

Abstract

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 the A→G transition at position 8344 and the MERRF syndrome, but they also show that this mutation can be associated with other phenotypes, including Leigh's syndrome, myoclonus or myopathy with truncal lipomas, and proximal myopathy. The absence of the mutation in four typical MERRF patients suggests that other mutations in the tRNALys gene, or elsewhere in the mitochondrial DNA, can produce the same phenotype.

Original languageEnglish
Pages (from-to)1200-1206
Number of pages7
JournalNeurology
Volume43
Issue number6
Publication statusPublished - Jun 1993

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MERRF Syndrome
Mitochondrial DNA
Nucleotides
Mutation
Muscular Diseases
Phenotype
RNA, Transfer, Lys
Leigh Disease
Mitochondrial Diseases
Myoclonus
Lipoma
Muscles

ASJC Scopus subject areas

  • Neuroscience(all)
  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

Cite this

Silvestri, G., Ciafaloni, E., Santorelli, F. M., Shanske, S., Servidei, S., Graf, W. D., ... DiMauro, S. (1993). Clinical features associated with the A→G transition at nucleotide 8344 of mtDNA ("MERRF mutation"). Neurology, 43(6), 1200-1206.

Clinical features associated with the A→G transition at nucleotide 8344 of mtDNA ("MERRF mutation"). / Silvestri, G.; Ciafaloni, E.; Santorelli, F. M.; Shanske, S.; Servidei, S.; Graf, W. D.; Sumi, M.; DiMauro, S.

In: Neurology, Vol. 43, No. 6, 06.1993, p. 1200-1206.

Research output: Contribution to journalArticle

Silvestri, G, Ciafaloni, E, Santorelli, FM, Shanske, S, Servidei, S, Graf, WD, Sumi, M & DiMauro, S 1993, 'Clinical features associated with the A→G transition at nucleotide 8344 of mtDNA ("MERRF mutation")', Neurology, vol. 43, no. 6, pp. 1200-1206.
Silvestri G, Ciafaloni E, Santorelli FM, Shanske S, Servidei S, Graf WD et al. Clinical features associated with the A→G transition at nucleotide 8344 of mtDNA ("MERRF mutation"). Neurology. 1993 Jun;43(6):1200-1206.
Silvestri, G. ; Ciafaloni, E. ; Santorelli, F. M. ; Shanske, S. ; Servidei, S. ; Graf, W. D. ; Sumi, M. ; DiMauro, S. / Clinical features associated with the A→G transition at nucleotide 8344 of mtDNA ("MERRF mutation"). In: Neurology. 1993 ; Vol. 43, No. 6. pp. 1200-1206.
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