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Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G)

โœ Scribed by Pastores, Gregory M. ;Santorelli, Filippo M. ;Shanske, Sara ;Gelb, Bruce D. ;Fyfe, Billie ;Wolfe, David ;Willner, Judith P.


Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
696 KB
Volume
50
Category
Article
ISSN
0148-7299

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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