期刊
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
卷 1792, 期 12, 页码 1109-1112出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.bbadis.2009.08.016
关键词
mtDNA; mtDNA depletion; C10orf2; SUCLG1; SUCLA2; TYMP; RRM2B; MPV17; DGUOK; TK2
资金
- European Neuromuscular Centre (ENMC)
- Association Francaise contre les Myopathies (France)
- Deutsche Gesellschaft fur Muskelkranke (Germany)
- Drustvo Distrofikov Slovenije (Slovenia)
- Telethon Foundation (Italy)
- Muscular Dystrophy Campaign (UK)
- Muskelsvindfonclen (Denmark)
- Prinses Beatrix Fonds (The Netherlands)
- Schweizerische Stiftung fur die Erforschung der Muskelkrankheiten (Switzerland)
- Osterreichische Muskelforschung (Austria)
- Vereniging Spierziekten Nederland (The Netherlands)
- American MDA
- Medical Research Council [G0500695] Funding Source: researchfish
- MRC [G0500695] Funding Source: UKRI
These tables list both published and a number of unpublished mutations in genes associated with early onset defects in mitochondrial DNA (mtDNA) maintenance including C10orf2, SUCLG1, SUCLA2, TYMP, RRM2B, MPV17, DGUOK and TK2. The list should not be taken as evidence that any particular mutation is pathogenic. We have included genes known to cause mtDNA depletion, excluding POLG1, because of the existing database (http://tools.niehs.nih.gov/polg/). We have also excluded mutations in C10orf2 associated with dominant adult onset disorders. (C) 2009 Elsevier B.V. All rights reserved.
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