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Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan

โœ Scribed by Akira Sudo; Shiho Honzawa; Ikuya Nonaka; Yu-ichi Goto


Publisher
Nature Publishing Group
Year
2004
Tongue
English
Weight
211 KB
Volume
49
Category
Article
ISSN
1435-232X

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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