A fatal case of COQ7‐associated primary coenzyme Q10 deficiency

A fatal case of COQ7‐associated primary coenzyme Q10 deficiency

Abstract Background Primary coenzyme Q10 (CoQ10) deficiencies are clinically and genetically heterogeneous group of disorders associated with defects of genes involved in the CoQ10 biosynthesis pathway. COQ7‐associated CoQ10 deficiency is very rare and only two cases have been reported. Methods and...

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Bibliographic Details
Main Authors: Anna K.‐Y. Kwong, Annie T.‐G. Chiu, Mandy H.‐Y. Tsang, Kin‐Shing Lun, Richard J. T. Rodenburg, Jan Smeitink, Brian H.‐Y. Chung, Cheuk‐Wing Fung
Format: Article
Language:English
Published: Wiley 2019-05-01
Series:JIMD Reports
Subjects:
coenzyme Q10
CoQ10
CoQ10 supplementation
COQ7
encephalo‐myo‐nephro‐cardiopathy
mitochondrial disease
Online Access:https://doi.org/10.1002/jmd2.12032

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