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The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle

✍ Scribed by Ariel Brautbar; Jing Wang; Jose E. Abdenur; Richard C. Chang; Janet A. Thomas; Theresa A. Grebe; Cynthia Lim; Shao-Wen Weng; Brett H. Graham; Lee-Jun Wong


Book ID
116988370
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
340 KB
Volume
94
Category
Article
ISSN
1096-7192

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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