Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

Mitochondrial diseases can be caused by pathogenic variants in nuclear or mitochondrial DNA-encoded genes that often lead to multisystemic symptoms and can have any mode of inheritance. Using a single test, Genome Sequencing (GS) can effectively identify variants in both genomes, but it has not yet...

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Bibliographic Details
Main Authors: Rocio Rius, Alison G. Compton, Naomi L. Baker, AnneMarie E. Welch, David Coman, Maina P. Kava, Andre E. Minoche, Mark J. Cowley, David R. Thorburn, John Christodoulou
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:Genes
Subjects:
mitochondria
heteroplasmy
genome sequencing
respiratory chain
mutation
Online Access:https://www.mdpi.com/2073-4425/12/4/607

Internet

https://www.mdpi.com/2073-4425/12/4/607

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