The Switch in the Diagnosis of Mitochondrial Diseases from the Classical ‘Function First’ To the NGS-based ‘Genetics First’ Diagnostic Era

The knowledge of causes and pathophysiology of mitochondrial diseases has increased exponentially in the last four decades. Recently, due to the decreased costs of new sequencing technologies (exome and whole genome sequencing), these technologies were applied more and more in clinical routine. The...

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Detalles Bibliográficos
Autores principales: Sperl, Wolfgang, Wortmann, Saskia, Feichtinger, René G., Mayr, Johannes A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2020
Materias:
Review Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8518096/
https://www.ncbi.nlm.nih.gov/pubmed/33179603
http://dx.doi.org/10.34763/jmotherandchild.20202402si.2005.000008

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8518096/
https://www.ncbi.nlm.nih.gov/pubmed/33179603
http://dx.doi.org/10.34763/jmotherandchild.20202402si.2005.000008

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