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ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

✍ Scribed by Sascha Vermeer; Rowdy P. P. Meijer; Benjamin J. Pijl; Janneke Timmermans; Johannes R. M. Cruysberg; Maaike M. Bos; Helenius J. Schelhaas; Bart. P. C. van de Warrenburg; Nine V. A. M. Knoers; Hans Scheffer; Berry Kremer


Publisher
Springer
Year
2008
Tongue
English
Weight
39 KB
Volume
10
Category
Article
ISSN
1364-6745

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## Abstract Nuclear genes, in particular mitochondrial polymerase gamma (__POLG__) and __PEO1__, have been increasingly recognized to cause mitochondrial diseases. Both genes assume a complementary role as part of the mitochondrial DNA (mtDNA) replication fork and, accordingly, seem to present with