Evolution meets disease: penetrance and functional epistasis of mitochondrial tRNA mutations.

About half of the mitochondrial DNA (mtDNA) mutations causing diseases in humans occur in tRNA genes. Particularly intriguing are those pathogenic tRNA mutations than can reach homoplasmy and yet show very different penetrance among patients. These mutations are scarce and, in addition to their obvi...

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Bibliographic Details
Main Authors: Raquel Moreno-Loshuertos, Gustavo Ferrín, Rebeca Acín-Pérez, M Esther Gallardo, Carlo Viscomi, Acisclo Pérez-Martos, Massimo Zeviani, Patricio Fernández-Silva, José Antonio Enríquez
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2011-04-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC3080857?pdf=render