Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency

Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency

Coenzyme Q10 (CoQ10) or ubiquinone is one of the two electron carriers in the mitochondrial respiratory chain which has an essential role in the process of oxidative phosphorylation. Defects in CoQ10 synthesis are usually associated with the impaired function of CoQ10–dependent complexes I, II and I...

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Bibliographic Details
Main Authors: Neal Sondheimer, Stacy Hewson, Jessie M. Cameron, Gino R. Somers, Jane Dunning Broadbent, Marcello Ziosi, Catarina Maria Quinzii, Ali B. Naini
Format: Article
Language:English
Published: Elsevier 2017-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
CoQ10 deficiency
CoQ4
Infantile cardiomyopathy
Encephalomyopathy
Whole exome sequencing
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426917300368

Internet

http://www.sciencedirect.com/science/article/pii/S2214426917300368

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