Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations.

Inherited mitochondrial DNA (mtDNA) mutations have emerged as a common cause of human disease, with mutations occurring multiple times in the world population. The clinical presentation of three pathogenic mtDNA mutations is strongly associated with a background mtDNA haplogroup, but it is not clear...

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Bibliographic Details
Main Authors: Wei Wei, Aurora Gomez-Duran, Gavin Hudson, Patrick F Chinnery
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2017-12-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC5757940?pdf=render