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Page 32 Berardo et al. J Transl Genet Genom 2020;4:22-35 I https://doi.org/10.20517/jtgg.2020.02

these syndromes and associated molecular defects will establish pathogenicity of variants identified by WES
and obviate further studies that are available only in specialized research laboratories.

Although in the suspect of primary coenzyme Q deficiency high doses of coenzyme Q supplementation
10
10
are recommended, early-onset neurological features are often not responsive to supplementation. CoQ
10
biosynthetic analogs might be suitable alternatives to CoQ supplementation, but additional analyses are
10
required before these compounds can be translated to the clinical setting.
DECLARATIONS
Authors’ contributions
Wrote the manuscript, designed the study and performed data analysis and interpretation: Berardo A,
Quinzii CM

Availability of data and materials
Not applicable.

Financial support and sponsorship
This work was supported by NIH P01 HD080642-01 (CMQ).

Conflicts of interest
All authors declared that there are no conflicts of interest.

Ethical approval and consent to participate
Not applicable.

Consent for publication
Not applicable.

Copyright
© The Author(s) 2020.

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