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| 1 | Peter Tang | + 592 word(s) | 592 | 2020-12-15 07:36:40 |
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Tang, P. RRM2B-MDS. Encyclopedia. Available online: https://encyclopedia.pub/entry/6062 (accessed on 20 September 2026).
Tang P. RRM2B-MDS. Encyclopedia. Available at: https://encyclopedia.pub/entry/6062. Accessed September 20, 2026.
Tang, Peter. "RRM2B-MDS" Encyclopedia, https://encyclopedia.pub/entry/6062 (accessed September 20, 2026).
Tang, P. (2021, January 04). RRM2B-MDS. In Encyclopedia. https://encyclopedia.pub/entry/6062
Tang, Peter. "RRM2B-MDS." Encyclopedia. Web. 04 January, 2021.
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RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (RRM2B-MDS) is a severe condition that begins in infancy and affects multiple body systems. It is associated with brain dysfunction combined with muscle weakness (encephalomyopathy). Many affected individuals also have a kidney dysfunction known as renal tubulopathy.
genetic conditions
References
- Bornstein B, Area E, Flanigan KM, Ganesh J, Jayakar P, Swoboda KJ, Coku J,Naini A, Shanske S, Tanji K, Hirano M, DiMauro S. Mitochondrial DNA depletionsyndrome due to mutations in the RRM2B gene. Neuromuscul Disord. 2008Jun;18(6):453-9. doi: 10.1016/j.nmd.2008.04.006.
- Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chrétien D, de LonlayP, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rötig A. Mutation ofRRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severemitochondrial DNA depletion. Nat Genet. 2007 Jun;39(6):776-80.
- Gorman GS, Taylor RW. RRM2B-Related Mitochondrial Disease. 2014 Apr 17. In:Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A,editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK195854/
- Pontarin G, Ferraro P, Bee L, Reichard P, Bianchi V. Mammalian ribonucleotide reductase subunit p53R2 is required for mitochondrial DNA replication and DNArepair in quiescent cells. Proc Natl Acad Sci U S A. 2012 Aug 14;109(33):13302-7.doi: 10.1073/pnas.1211289109.
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