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Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission

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  • DT, AR and CN contributed equally.

  • Contributors All the authors contributed significantly to this work. DT and AR wrote the first draft. CN, MB, AT, MP, DF, DG performed NGS studies. RB, MAD, FP, EP, RP, SG, SG performed clinical studies. SD, DT performed biochemical investigations. FMS coordinated this study.

  • Funding This study was partially supported by a grant from the Italian Ministry of Health-Ricerca Corrente 5X1000 (to RB and FMS), and research projects MITO-NEXT, Mit-OMICS, and AUT-Omics (to FMS).

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.