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The switch in the diagnosis of mitochondrial diseases from the classical ‘function first’ to the NGS-based ‘genetics first’ diagnostic era Cover

The switch in the diagnosis of mitochondrial diseases from the classical ‘function first’ to the NGS-based ‘genetics first’ diagnostic era

Journal of Mother and Child
Volume 24 (2020): Issue 2 (June 2020)
By: Wolfgang Sperl,  Saskia Wortmann,  René G. Feichtinger and  Johannes A. Mayr  
Open Access
|Oct 2020

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DOI: https://doi.org/10.34763/jmotherandchild.20202402si.2005.000008 | Journal eISSN: 2719-535X | Journal ISSN: 2719-6488
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Language: English
Page range: 47 - 52
Published on: Oct 2, 2020
Published by: Institute of Mother and Child
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
mitochondrial diseases,
OXPHOS,
paediatrics,
diagnostics,
next generation sequencing,
exome sequencing,
whole genome sequencing,
mitochondrial DNA,
diagnostic centres
Related subjects:
Medicine,
Clinical medicine,
Pediatrics and juvenile medicine,
Paediatric haematology and oncology,
Public health

© 2020 Wolfgang Sperl, Saskia Wortmann, René G. Feichtinger, Johannes A. Mayr, published by Institute of Mother and Child
This work is licensed under the Creative Commons Attribution 4.0 License.

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