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Mitochondrial genetics
De novo mtDNA point mutations are common and have a low recurrence risk

Authors

  • Suzanne C E H Sallevelt Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands PubMed articlesGoogle scholar articles
  • Christine E M de Die-Smulders Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands Research School for Developmental Biology (GROW), Maastricht University, Maastricht, The Netherlands PubMed articlesGoogle scholar articles
  • Alexandra T M Hendrickx Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands PubMed articlesGoogle scholar articles
  • Debby M E I Hellebrekers Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands PubMed articlesGoogle scholar articles
  • Irenaeus F M de Coo Department of Neurology, Erasmus MC-Sophia Children's Hospital Rotterdam, Rotterdam, The Netherlands PubMed articlesGoogle scholar articles
  • Charlotte L Alston Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK PubMed articlesGoogle scholar articles
  • Charlotte Knowles Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK PubMed articlesGoogle scholar articles
  • Robert W Taylor Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK PubMed articlesGoogle scholar articles
  • Robert McFarland Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK PubMed articlesGoogle scholar articles
  • Hubert J M Smeets Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands Research School for Developmental Biology (GROW), Maastricht University, Maastricht, The Netherlands Research School for Cardiovascular Diseases in Maastricht, CARIM, Maastricht University, Maastricht, The Netherlands PubMed articlesGoogle scholar articles
  1. Correspondence to Suzanne C E H Sallevelt, Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), P. Debeyelaan 25, P.O. Box 5800, Maastricht 6202 AZ, The Netherlands; suzanne.sallevelt{at}mumc.nl
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Citation

Sallevelt SCEH, de Die-Smulders CEM, Hendrickx ATM, et al
De novo mtDNA point mutations are common and have a low recurrence risk
Journal of Medical Genetics 2017;54:73-83.

Publication history

  • Received March 1, 2016
  • Revised June 2, 2016
  • Accepted June 9, 2016
  • First published July 22, 2016.
Online issue publication 
January 20, 2017

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Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/ This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0/