Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome
Author:
Publisher
Oxford University Press (OUP)
Subject
Neurology (clinical)
Link
http://academic.oup.com/brain/article-pdf/131/11/2841/1060895/awn236.pdf
Reference31 articles.
1. Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance
2. Depletion of mtDNA: Syndromes and genes
3. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
4. Mutation analysis in 16 patients with mtDNA depletion
5. Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion
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