Delineation of molecular findings by whole exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population

• Published in: Human Genomics
• Main Authors: Mandy Ho-Yin Tsang, Anna Ka-Yee Kwong, Kate Lok-San Chan, Jasmine Lee-Fong Fung, Mullin Ho-Chung Yu, Christopher Chun-Yu Mak, Kit-San Yeung, Richard J.T. Rodenburg, Jam A.M. Smeitink, Chan, Rachel, Tsoi, Thomas, Hui, Joannie, Wong, Sheila Suet-Na, Shuk-Mui Tai, Chan, Victor Chi-Man, Che-Kwan, Ma, Tsiu-Hang, Sharon Fung, Shun-Ping Wu, Chan, W K, Brian Hon-Yin Chung, Cheuk-wing Fung
• Format: Web Resource
• Language: English
• Published: Durham Research Square 28.08.2020
• Subjects: Disease; Mitochondrial DNA; Mutation; Pediatrics

Background Mitochondrial diseases (MDs) are a group of clinically and genetically heterogeneous disorders characterized by defects in oxidative phosphorylation. Since clinical phenotypes of MDs may be non-specific, genetic diagnosis is crucial for guiding disease management. In the current study, wh...