A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.

Skeletal muscle mtDNA of three patients with mitochondrial encephalomyopathy, characterized clinically by myoclonic epilepsy and ragged-red fiber (MERRF) syndrome, has been sequenced to determine the underlying molecular defect(s). An A-to-G substitution of nt 8344 in the tRNA(Lys) gene, a substitut...

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Detalhes bibliográficos
Main Authors: Noer, A S, Sudoyo, H, Lertrit, P, Thyagarajan, D, Utthanaphol, P, Kapsa, R, Byrne, E, Marzuki, S
Formato: Artigo
Idioma:Inglês
Publicado em: 1991
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683178/
https://ncbi.nlm.nih.gov/pubmed/1910259
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