The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome.

OBJECTIVE--To verify the phenotype to genotype correlations of mitochondrial DNA (mtDNA) related disorders in an atypical maternally inherited encephalomyopathy. METHODS--Neuroradiological, morphological, biochemical, and molecular genetic analyses were performed on the affected members of a pedigre...

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Autores principales: Fabrizi, G M, Cardaioli, E, Grieco, G S, Cavallaro, T, Malandrini, A, Manneschi, L, Dotti, M T, Federico, A, Guazzi, G
Formato: Artigo
Lenguaje:Inglês
Publicado: 1996
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC486456/
https://ncbi.nlm.nih.gov/pubmed/8676159
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