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Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).

We investigated the distribution and expression of mutant mtDNAs carrying the A-to-G mutation at position 8344 in the tRNA(Lys) gene in the skeletal muscle of four patients with myoclonus epilepsy and ragged-red fibers (MERRF). The proportion of mutant genomes was greater than 80% of total mtDNAs in...

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Détails bibliographiques
Auteurs principaux: Boulet, L, Karpati, G, Shoubridge, E A
Format: Artigo
Langue:Inglês
Publié: 1992
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682926/
https://ncbi.nlm.nih.gov/pubmed/1334369
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