Mitochondrial Complex III Deficiency Caused by a HomozygousUQCRC2Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation-Reference-Cited by-同舟云学术

Mitochondrial Complex III Deficiency Caused by a HomozygousUQCRC2Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation

Published:2013-03 Issue:3 Volume:34 Page:446-452
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Miyake Noriko¹,Yano Shoji²,Sakai Chika³,Hatakeyama Hideyuki³,Matsushima Yuichi³,Shiina Masaaki⁴,Watanabe Yoriko⁵,Bartley James⁶,Abdenur Jose E.⁷,Wang Raymond Y.⁷,Chang Richard⁷,Tsurusaki Yoshinori¹,Doi Hiroshi¹,Nakashima Mitsuko¹,Saitsu Hirotomo¹,Ogata Kazuhiro⁴,Goto Yu-ichi³,Matsumoto Naomichi¹

Affiliation:

1. Department of Human Genetics; Yokohama City University Graduate School of Medicine; Yokohama; Japan

2. Genetics Division, Department of Pediatrics, LAC + USC Medical Center, Keck School of Medicine; University of Southern California; Los Angeles; California

3. Department of Mental Retardation and Birth Defect Research; National Institute of Neuroscience, NCNP, Kodaira; Tokyo; Japan

4. Department of Biochemistry; Yokohama City University Graduate School of Medicine; Yokohama; Japan

5. Department of Pediatrics and Child Health; Kurume University School of Medicine; Kurume; Japan

6. Division of Medical Genetics, Department of Pediatrics; Children's Hospital Los Angeles; Los Angeles; California

7. Division of Metabolic Disorders; CHOC Children's; Orange; California

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22257/fullpdf

Reference17 articles.

1. Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ;Barel;Am J Hum Genet,2008

2. Respiratory-chain diseases related to complex III deficiency;Benit;Biochim Biophys Acta,2009

3. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure;de Lonlay;Nat Genet,2001

4. Mitochondrial respiratory-chain diseases;DiMauro;N Engl J Med,2003

5. Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy;Fernandez-Vizarra;Hum Mol Genet,2007

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