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: Raap, Anton K., Jahangir Tafrechi, Roshan S., van de Rijke, Frans M., Pyle, Angela, Wählby, Carolina, Szuhai, Karoly, Ravelli, Raimond B. G., de Coo, René F. M., Rajasimha, Harsha K., Nilsson, Mats, Chinnery, Patrick F., Samuels, David C., Janssen, George M. C.
Format: Online
Language:English
Published: Public Library of Science 2012
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3525564/