New evidence of a mitochondrial genetic background paradox: Impact of the J haplogroup on the A3243G mutation

<p>Abstract</p> <p>Background</p> <p>The A3243G mutation in the tRNALeu gene (UUR), is one of the most common pathogenic mitochondrial DNA (mtDNA) mutations in France, and is associated with highly variable and heterogeneous disease phenotypes. To define the relationshi...

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Main Authors: Pennarun Erwann, Arveiler Benoit, Bellanne-Chantelot Christine, Feldmann Delphine, Rotig Agnes, Godinot Catherine, de Camaret Benedicte, Batandier Cécile, Allouche Stéphane, Martin-Négrier Marie-Laure, Reynier Pascal, Amati-Bonneau Patricia, Rocher Christophe, Pierron Denis, Rossignol Rodrigue, Crouzet Marc, Murail Pascal, Thoraval Didier, Letellier Thierry
Format: Article
Language:English
Published: BMC 2008-05-01
Series:BMC Medical Genetics
Online Access:http://www.biomedcentral.com/1471-2350/9/41