The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene-Reference-Cited by-同舟云学术

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

Published:2007-04-05 Issue:8 Volume:130 Page:2037-2044
ISSN:1460-2156
Container-title:Brain
language:en
Short-container-title:

Author:

Gempel Klaus,Topaloglu Haluk,Talim Beril,Schneiderat Peter,Schoser Benedikt G. H.,Hans Volkmar H.,Pálmafy Beatrix,Kale Gulsev,Tokatli Aysegul,Quinzii Catarina,Hirano Michio,Naini Ali,DiMauro Salvatore,Prokisch Holger,Lochmüller Hanns,Horvath Rita

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/130/8/2037/17862488/awm054.pdf

Reference21 articles.

1. Electron transfer flavoprotein; ubiquinone oxidoreductase (ETF;QO) deficiency in an adult;Bell;Neurology,1990

2. So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager;Beresford;Neuromuscul Disord,2006

3. Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset;de Visser;Neurology,1986

4. Systemic carnitine deficiency due to lack of electron transfer flavoprotein; ubiquinone oxidoreductase;Di Donato;Neurology,1986

5. A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q;Fischer;Eur J Pediatr,1986

Cited by 286 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Understanding coenzyme Q;Physiological Reviews;2024-10-01

2. Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia;Molecular Genetics and Metabolism;2024-08

3. Efficacy and Safety of Coenzyme Q10 Supplementation in Neonates, Infants and Children: An Overview;Antioxidants;2024-04-26

4. The presence of white cell Jordan's anomaly in multiple Acyl-CoA dehydrogenase deficiency: A case report and implications for clinical practice;Clinical Biochemistry;2024-03

5. An ETFDH-driven metabolon supports OXPHOS efficiency in skeletal muscle by regulating coenzyme Q homeostasis;Nature Metabolism;2024-01-19