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Dystonia in mitochondrial spinocerebellar ataxia and epilepsy syndrome associated with novel recessive POLG mutations

✍ Scribed by Claire Hinnell; Salman Haider; Shane Delamont; Chris Clough; Nedim Hadzic; Michael Samuel


Book ID
102505205
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
341 KB
Volume
27
Category
Article
ISSN
0885-3185

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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