Mitochondrial Diseases: A Diagnostic Revolution.

Trends in Genetics : TIG
Katherine R SchonPatrick F Chinnery

Abstract

Mitochondrial disorders have emerged as a common cause of inherited disease, but are traditionally viewed as being difficult to diagnose clinically, and even more difficult to comprehensively characterize at the molecular level. However, new sequencing approaches, particularly whole-genome sequencing (WGS), have dramatically changed the landscape. The combined analysis of nuclear and mitochondrial DNA (mtDNA) allows rapid diagnosis for the vast majority of patients, but new challenges have emerged. We review recent discoveries that will benefit patients and families, and highlight emerging questions that remain to be resolved.

Citations

Dec 17, 2020·Frontiers in Cell and Developmental Biology·Lea D Schlieben, Holger Prokisch
Jan 19, 2021·La Revue de médecine interne·S AlloucheF Chapon
Nov 12, 2020·International Journal of Molecular Sciences·Tian ZhaoTimothy E Shutt
Feb 16, 2021·The Journal of Pathology·Charlotte L AlstonRobert W Taylor
Mar 23, 2021·Ophthalmology·Anthony T Moore, Patrick Yu-Wai-Man
May 1, 2021·Diagnostics·Andrea BarpValeria Ada Sansone
May 28, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Celine BrisVincent Procaccio
May 30, 2021·Nature Communications·Ugne ZekonyteCarlos T Moraes
Jul 3, 2021·International Journal of Molecular Sciences·Siarhei A DabravolskiAlexander N Orekhov
Aug 25, 2021·Nucleic Acids Research·Thiloka E RatnaikePatrick F Chinnery
Sep 13, 2021·The FEBS Journal·Christopher F BennettPere Puigserver
Nov 5, 2021·BMJ : British Medical Journal·Patrick F Chinnery
Nov 5, 2021·BMJ : British Medical Journal·Katherine R SchonUNKNOWN Genomics England Research Consortium

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