Widespread tissue distribution of a trnaleu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome

Enzo Ricci, Serenella Servidei, Gabriella Silvestri, E. Ciafaloni, S. Shanske, E. A. Schon, Salvatore Dimauro

Risultato della ricerca: Contributo in rivistaArticolo in rivista

94 Citazioni (Scopus)

Abstract

We documented the presence of a newly described point mutation in the tRNA Leu(UUR) gene of mitochondrial DNA in five postmortem tissues from a patient with MELAS syndrome. The mutation was heteroplasmic, but the percentage of mutant genomes was similar (79 to 88%) in both clinically affected and unaffected tissues. © 1991 American Academy of Neurology.
Lingua originaleEnglish
pagine (da-a)1663-1665
Numero di pagine3
RivistaNeurology
Volume41
DOI
Stato di pubblicazionePubblicato - 1991

Keywords

  • mtDNA
  • MELAS

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