| 1 | MDDS5, RRM2B
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| A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.
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| Acham-Roschitz B, Plecko B, Lindbichler F, Bittner R, Mache CJ, Sperl W, Mayr JA.
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| Mol Genet Metab 98(3):300-4. Epub 2009 Jun 25.PMID: 19616983 2009
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| 2 | MDDS5, RRM2B
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| Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.
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| Bornstein B, Area E, Flanigan KM, Ganesh J, Jayakar P, Swoboda KJ, Coku J, Naini A, Shanske S, Tanji K, Hirano M, DiMauro S.
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| Neuromuscul Disord 18(6):453-9. Epub 2008 May 27.PMID: 18504129 2008
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| 3 | RRM2B, MDDS5
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| Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.
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| Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chretien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rotig A.
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| Nat Genet 39(6):776-80. Epub 2007 May 7. 2007
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