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...

Täydet tiedot

Bibliografiset tiedot
Päätekijät: Neal Sondheimer, Stacy Hewson, Jessie M. Cameron, Gino R. Somers, Jane Dunning Broadbent, Marcello Ziosi, Catarina Maria Quinzii, Ali B. Naini
Aineistotyyppi: Artikkeli
Kieli:English
Julkaistu: Elsevier 2017-09-01
Sarja:Molecular Genetics and Metabolism Reports
Aiheet:
CoQ10 deficiency
CoQ4
Infantile cardiomyopathy
Encephalomyopathy
Whole exome sequencing
Linkit:http://www.sciencedirect.com/science/article/pii/S2214426917300368

Internet

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

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