ePrints

First-line genomic diagnosis of mitochondrial disorders

Lookup NU author(s): Professor Rita HorvathORCiD, Professor Patrick Chinnery

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.

Abstract

© 2018 Macmillan Publishers Ltd., part of Springer Nature. Current approaches for diagnosing mitochondrial disorders involve specialist clinical assessment, biochemical analyses and targeted molecular genetic testing. There is now a strong rationale for undertaking first-line genome-wide sequencing, accelerating the speed of diagnosis and avoiding the need for expensive and invasive investigations.

Publication metadata

Author(s): Raymond FL, Horvath R, Chinnery PF

Publication type: Article

Publication status: Published

Journal: Nature Reviews Genetics

Year: 2018

Volume: 19

Pages: 399-400

Print publication date: 01/07/2018

Online publication date: 22/05/2018

Acceptance date: 02/04/2018

ISSN (print): 1471-0056

ISSN (electronic): 1471-0064

Publisher: Nature Publishing Group

URL: https://doi.org/10.1038/s41576-018-0022-1

DOI: 10.1038/s41576-018-0022-1

Altmetrics

Share