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Mutations in the PDYN gene (SCA23) are not a frequent cause of dominant ataxia in Central Europe

✍ Scribed by J Schicks; M Synofzik; C Beetz; F Schiele; L Schöls


Book ID
110889246
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
473 KB
Volume
80
Category
Article
ISSN
0009-9163

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POLG, but not PEO1, is a frequent cause
✍ Julia Schicks; Matthis Synofzik; Claudia Schulte; Ludger Schöls 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 645 KB

## 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