Article
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
Brain : a journal of neurology - 1 Dec 2012
Neeve Vivienne C M, Samuels David C, Bindoff Laurence A, van den Bosch Bianca, Van Goethem Gert, Smeets Hubert, Lombès Anne, Jardel Claude, Hirano Michio, Dimauro Salvatore, De Vries Maaike, Smeitink Jan, Smits Bart W, de Coo Ireneus F M, Saft Carsten, Klopstock Thomas, Keiling Bianca-Cortina, Czermin Birgit, Abicht Angela, Lochmüller Hanns, Hudson Gavin, Gorman Grainne G, Turnbull Doug M, Taylor Robert W, Holinski-Feder Elke, Chinnery Patrick F, Horvath Rita
Abstract excerpt
Polymerase-γ (POLG) is a major human disease gene and may account for up to 25% of all mitochondrial diseases in the UK and in Italy. To date, >150 different pathogenic mutations have been described in POLG. Some mutations behave as both dominant and recessive alleles, but an autosomal recessive inheritance pattern is much more common. The most frequently detected pathogenic POLG mutation in the Caucasian...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.