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.

Ciafaloni, E., Ricci, E., Servidei, S., Shanske, S., Silvestri, G., Manfredi, G., Schon, E. A., Dimauro, S., Widespread tissue distribution of a trnaleu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome, <<NEUROLOGY>>, 1991; 41 (10): 1663-1665. [doi:10.1212/wnl.41.10.1663] [http://hdl.handle.net/10807/166547]

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

Ricci, Enzo;Servidei, Serenella;Silvestri, Gabriella;
1991

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.
1991
Inglese
Ciafaloni, E., Ricci, E., Servidei, S., Shanske, S., Silvestri, G., Manfredi, G., Schon, E. A., Dimauro, S., Widespread tissue distribution of a trnaleu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome, <<NEUROLOGY>>, 1991; 41 (10): 1663-1665. [doi:10.1212/wnl.41.10.1663] [http://hdl.handle.net/10807/166547]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/166547
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