A novel inborn error of the Coenzyme Q10 biosynthesis pathway: Cerebellar ataxia and static encephalomyopathy due to COQ5 C-Methyltransferase deficiency

Primary coenzyme Q10 (CoQ(10); MIM# 607426) deficiencies are an emerging group of inherited mitochondrial disorders with heterogonous clinical phenotypes. Over a dozen genes are involved in the biosynthesis of CoQ(10), and mutations in several of these are associated with human disease. However, mut...

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Veröffentlicht in:Hum Mutat
Hauptverfasser: Malicdan, May Christine V., Vilboux, Thierry, Ben-Zeev, Bruria, Guo, Jennifer, Eliyahu, Aviva, Pode-Shakked, Ben, Dori, Amir, Kakani, Sravan, Chandrasekharappa, Settara C., Ferreira, Carlos, Shelestovich, Natalia, Marek-Yagel, Dina, Pri-Chen, Hadass, Blatt, Ilan, Niederhuber, John E., He, Langping, Toro, Camilo, Taylor, Robert W., Deeken, John, Yardeni, Tal, Wallace, Douglas C., Gahl, William A., Anikster, Yair
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2017
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5722658/
https://ncbi.nlm.nih.gov/pubmed/29044765
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23345
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