Article
Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromes.
PloS one - 19 Apr 2011
Gómez-Carballa Alberto, Cerezo María, Balboa Emilia, Heredia Claudia, Castro-Feijóo Lidia, Rica Itxaso, Barreiro Jesús, Eirís Jesús, Cabanas Paloma, Martínez-Soto Isabel, Fernández-Toral Joaquín, Castro-Gago Manuel, Pombo Manuel, Carracedo Ángel, Barros Francisco, Salas Antonio
Abstract excerpt
BACKGROUND: There are several known autosomal genes responsible for Ras/MAPK pathway syndromes, including Noonan syndrome (NS) and related disorders (such as LEOPARD, neurofibromatosis type 1), although mutations of these genes do not explain all cases. Due to the important role played by the mitochondrion in the energetic metabolism of cardiac muscle, it was recently proposed that variation in the mitochondrial...
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