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

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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

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

Authors

Wolfgang Sperl

w.sperl@salk.at

Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University Salzburg, Salzburg, Austria

Saskia Wortmann

Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University Salzburg, Salzburg, Austria

René G. Feichtinger

Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University Salzburg, Salzburg, Austria

Johannes A. Mayr

Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University Salzburg, Salzburg, Austria

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,

next generation sequencing,

exome sequencing,

whole genome sequencing,

mitochondrial DNA,

diagnostic centres

Related subjects:

Clinical medicine,

Pediatrics and juvenile medicine,

Paediatric haematology and oncology,

© 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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