Guo, Le http://orcid.org/0000-0002-9882-8230
Engelen, Bob P. H.
Hemel, Irene M. G. M.
de Coo, Irenaeus F. M.
Vreeburg, Maaike
Sallevelt, Suzanne C. E. H. http://orcid.org/0000-0002-9778-9823
Hellebrekers, Debby M. E. I.
Jacobs, Ed H.
Sadeghi-Niaraki, Farah
van Tienen, Florence H. J.
Smeets, Hubert J. M. http://orcid.org/0000-0003-3859-8522
Gerards, Mike
Funding for this research was provided by:
China Sponsorship Council (201606310036)
Neuromusculair en Mitochondrieel Onderzoek (NeMO) foundation
Dutch Province of Limburg
Article History
Received: 8 December 2020
Revised: 9 June 2021
Accepted: 10 August 2021
First Online: 23 August 2021
Competing interests
: The authors declare no competing interests.
: Follow-up investigations to confirm the genetic diagnosis were performed in accordance with the regulations of the local ethical committee of Maastricht University Medical Centre.
: Subjects gave written informed consent for WES analysis in accordance with the Declaration of Helsinki as part of their clinical/molecular genetics diagnosis at Maastricht University Medical Centre.