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A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome

✍ Scribed by C Vilain; C Rens; A Aeby; D Balériaux; P Van Bogaert; G Remiche; J Smet; R Van Coster; M Abramowicz; I Pirson

Book ID
117948280
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
748 KB
Volume
82
Category
Article
ISSN
0009-9163

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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