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G.P.3.05 A novel heteroplasmic mitochondrial MT-ND5 frameshift mutation causing isolated paediatric complex I deficiency

✍ Scribed by C. Alston; C. Reid; R. Horvath; H. Mundy; R.W. Taylor

Book ID: 116793970
Publisher: Elsevier Science
Year: 2009
Tongue: English
Weight: 53 KB
Volume: 19
Category: Article
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2009.06.063

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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