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Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA–ND3

✍ Scribed by Esther Leshinsky-Silver; Dorit Lev; Gustavo Malinger; Daniel Shapira; Sarit Cohen; Tally Lerman-Sagie; Ann Saada


Book ID
116988952
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
709 KB
Volume
100
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