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- Title
Kearns-Sayre syndrome caused by defective R1/p53R2 assembly.
- Authors
Pitceathly, Robert D S; Fassone, Elisa; Taanman, Jan-Willem; Sadowski, Michael; Fratter, Carl; Mudanohwo, Ese E; Woodward, Cathy E; Sweeney, Mary G; Holton, Janice L; Hanna, Michael G; Rahman, Shamima
- Abstract
Mutations in RRM2B encoding ribonucleotide reductase (RNR) p53R2 subunit usually cause paediatric-onset mitochondrial disease associated with mitochondrial DNA (mtDNA) depletion. The importance of RNR dysfunction in adult mitochondrial disease is unclear.
- Publication
Journal of medical genetics, 2011, Vol 48, Issue 9, p610
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmg.2010.088328