Tsang, Mandy H.Y.
Kwong, Anna K.Y.
Chan, Kate L.S.
Fung, Jasmine L.F.
Yu, Mullin H.C.
Mak, Christopher C.Y.
Yeung, Kit-San
Rodenburg, Richard J.T.
Smeitink, Jan A.M.
Chan, Rachel
Tsoi, Thomas
Hui, Joannie
Wong, Shelia S.N
Tai, Shuk-Mui
Chan, Victor C.M.
Ma, Che-Kwan
Fung, Sharon T.H.
Wu, Shun-Ping
Chak, W.K.
Chung, Brian H.Y.
Fung, Cheuk-Wing
Funding for this research was provided by:
The Society for the Relief of Disabled Children
the Joshua Hellmann Foundation
The Edward and Yolanda Wong Fund
Article History
Received: 16 April 2020
Accepted: 27 August 2020
First Online: 10 September 2020
Ethics approval and consent to participate
: The study was approved by the institutional review board of the University of Hong Kong/Hospital Authority Hong Kong West Cluster (IRB Ref. no: UW11-190 and UW12-211). Written informed consent was obtained from the patients or their guardians before performing WES.
: Written informed consent for publication was obtained from the parents of participants.
: J.S. is the CEO of Khondrion, a pharmaceutical company developing compounds to potentially treat mitochondrial disease. Other authors declare no conflict of interest.