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P77 Complex I-deficient Leigh syndrome caused by a novel homozygous deletion in NDUFS4

✍ Scribed by E. Fassone; A.J. Duncan; S. Rahman

Book ID: 117670241
Publisher: Elsevier Science
Year: 2010
Tongue: English
Weight: 66 KB
Volume: 20
Category: Article
ISSN: 0960-8966
DOI: 10.1016/s0960-8966(10)70092-4

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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