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RRM2B-Related Mitochondrial Disease

Lookup NU author(s): Professor Grainne Gorman, Dr Robert Pitceathly, Emeritus 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.

Publication metadata

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

Year: 2013

Volume: 9781461437222

Pages: 171-182

Online publication date: 18/09/2012

Publisher: Springer New York

Place Published: New York, NY, USA


DOI: 10.1007/978-1-4614-3722-2_11

Library holdings: Search Newcastle University Library for this item

ISBN: 9781461437222