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 originale | English |
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pagine (da-a) | 1663-1665 |
Numero di pagine | 3 |
Rivista | Neurology |
Volume | 41 |
DOI | |
Stato di pubblicazione | Pubblicato - 1991 |
Keywords
- MELAS
- mtDNA