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P47 Mutations in the novel chaperone FOXRED1 cause mitochondrial complex I deficiency

✍ Scribed by E. Fassone; A.J. Duncan; J.-W. Taanman; A.T. Pagnamenta; M. Sadowski; T. Holand; W. Qasim; P. Rutland; S.E. Calvo; V.K. Mootha; M. Bitner-Glindzicz; S. Rahman

Book ID: 117670365
Publisher: Elsevier Science
Year: 2011
Tongue: English
Weight: 43 KB
Volume: 21
Category: Article
ISSN: 0960-8966
DOI: 10.1016/s0960-8966(11)70066-9

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## Abstract Defects in NADH:ubiquinone oxidoreductase (complex I), the largest complex of the mitochondrial respiratory chain, account for most cases of respiratory chain deficiency in human. Complex I contains at least 45 subunits, 7 of which are encoded by mitochondrial DNA (mtDNA). Here we repor