Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

These tables list both published and a number of unpublished mutations in genes associated with early onset defects in mitochondrial DNA (mtDNA) maintenance including C10orf2, SUCLG1, SUCLA2, TYMP, RRM2B, MPV17, DGUOK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.

Original publication

DOI

10.1016/j.bbadis.2009.08.016

Type

Journal article

Journal

Biochim Biophys Acta

Publication Date

12/2009

Volume

1792

Pages

1109 - 1112

Keywords

DNA, Mitochondrial, Genes, Mitochondrial, Humans, Mitochondrial Diseases, Mutation, Syndrome