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First-line genomic diagnosis of mitochondrial disorders

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


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© 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

Pages: 1-2

Online publication date: 22/05/2018

Acceptance date: 02/04/2018

ISSN (print): 1471-0056

ISSN (electronic): 1471-0064

Publisher: Nature Publishing Group


DOI: 10.1038/s41576-018-0022-1


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