期刊
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
卷 1792, 期 12, 页码 1103-1108出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.bbadis.2009.06.009
关键词
Mitochondria; mtDNA depletion; Respiratory chain
资金
- Medical Research Council [G0500695] Funding Source: researchfish
- MRC [G0500695] Funding Source: UKRI
- Medical Research Council [G0500695] Funding Source: Medline
Mitochondrial DNA (mtDNA) depletion is characterized by a profound reduction of mtDNA copy number. The maintenance of mtDNA copy number requires several nuclear-encoded factors involved in replication and in dNTP supply. In the past decade mutations in several of these factors have been reported in a growing number of syndromes. This article reviews the current knowledge of genes causing mitochondrial DNA depletion syndromes. (C) 2009 Published by Elsevier B.V.
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