Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern C...
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
About this item
Full title
Author / Creator
Yu, Mullin Ho-Chung , Tsang, Mandy Ho-Yin , Lai, Sophie , Ho, Matthew Sai-Pong , Tse, Donald M. L. , Willis, Brooke , Kwong, Anna Ka-Yee , Chou, Yen-Yin , Lin, Shuan-Pei , Quinzii, Catarina M , Hwu, Wuh-Liang , Chien, Yin-Hsiu , Kuo, Pao-Lin , Chan, Victor Chi-Man , Tsoi, Cheung , Chong, Shuk-Ching , Rodenburg, Richard J. T. , Smeitink, Jan , Mak, Christopher Chun-Yu , Yeung, Kit-San , Fung, Jasmine Lee-Fong , Lam, Wendy , Hui, Joannie , Lee, Ni-Chung , Fung, Cheuk‐Wing and Chung, Brian Hon-Yin
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Primary coenzyme Q10 deficiency-7 (COQ10D7) is a rare mitochondrial disease caused by biallelic mutations in
COQ4
. Here we report the largest cohort of COQ10D7 to date, with 11 southern Chinese patients confirmed with biallelic
COQ4
mutations. Five of them have the classical neonatal-onset encephalo-cardiomyopathy, while the others hav...
Alternative Titles
Full title
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
Authors, Artists and Contributors
Author / Creator
Tsang, Mandy Ho-Yin
Lai, Sophie
Ho, Matthew Sai-Pong
Tse, Donald M. L.
Willis, Brooke
Kwong, Anna Ka-Yee
Chou, Yen-Yin
Lin, Shuan-Pei
Quinzii, Catarina M
Hwu, Wuh-Liang
Chien, Yin-Hsiu
Kuo, Pao-Lin
Chan, Victor Chi-Man
Tsoi, Cheung
Chong, Shuk-Ching
Rodenburg, Richard J. T.
Smeitink, Jan
Mak, Christopher Chun-Yu
Yeung, Kit-San
Fung, Jasmine Lee-Fong
Lam, Wendy
Hui, Joannie
Lee, Ni-Chung
Fung, Cheuk‐Wing
Chung, Brian Hon-Yin
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6683205
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6683205
Other Identifiers
ISSN
2056-7944
E-ISSN
2056-7944
DOI
10.1038/s41525-019-0091-x
