Lookup NU author(s): Dr Grainne Gorman,
Dr Robert Pitceathly,
Professor Doug Turnbull,
Professor Robert Taylor
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© 2013 Springer Science+Business Media, LLC. All rights reserved. Disorders of mitochondrial DNA (mtDNA) maintenance are well-recognised causes of mitochondrial disease presentations in both adults and children. In this chapter, we review the expanding clinical spectrum associated with mutation of the nuclear-encoded RRM2B gene which encodes the small subunit of p53-inducible ribonucleotide reductase (p53R2). Both recessive and dominant RRM2B mutations have been reported which can lead to different, secondary mtDNA changes including quantitative loss of mtDNA copy number and clonally-expanded multiple mtDNA deletions in post-mitotic tissues.
Author(s): Gorman GS, Pitceathly RDS, Turnbull DM, Taylor RW
Publication type: Book Chapter
Publication status: Published
Book Title: Mitochondrial Disorders Caused by Nuclear Genes
Online publication date: 18/09/2012
Publisher: Springer New York
Place Published: New York, NY, USA
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