Non-random mtDNA segregation patterns indicate a metastable heteroplasmic segregation unit in m.3243A>G cybrid cells.

Many pathogenic mitochondrial DNA mutations are heteroplasmic, with a mixture of mutated and wild-type mtDNA present within individual cells. The severity and extent of the clinical phenotype is largely due to the distribution of mutated molecules between cells in different tissues, but mechanisms u...

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Bibliographic Details
Main Authors: Anton K Raap, Roshan S Jahangir Tafrechi, Frans M van de Rijke, Angela Pyle, Carolina Wählby, Karoly Szuhai, Raimond B G Ravelli, René F M de Coo, Harsha K Rajasimha, Mats Nilsson, Patrick F Chinnery, David C Samuels, George M C Janssen
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3525564?pdf=render