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. 2011 Jun 7;76(23):2032-4.
doi: 10.1212/WNL.0b013e31821e558b.

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

C Fratter  1 , P Raman, C L Alston, E L Blakely, K Craig, C Smith, J Evans, A Seller, B Czermin, M G Hanna, J Poulton, C Brierley, T G Staunton, P D Turnpenny, A M Schaefer, P F Chinnery, R Horvath, D M Turnbull, G S Gorman, R W Taylor
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RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

C Fratter et al. Neurology. .
No abstract available

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References

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    1. Fratter C, Gorman GS, Stewart JD, et al. The clinical, histochemical and molecular spectrum of PEO1 (Twinkle)-linked adPEO. Neurology 2010;74:1619–1626 - PMC - PubMed
    1. Bourdon A, Minai L, Serre V, et al. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet 2007;39:776–780 - PubMed
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    1. Spinazzola A, Invernizzi F, Carrara F, et al. Clinical and molecular features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis 2009;32:143–158 - PubMed

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