Format

Send to

Choose Destination
See comment in PubMed Commons below
Biochim Biophys Acta. 2009 Dec;1792(12):1109-12. doi: 10.1016/j.bbadis.2009.08.016. Epub 2009 Sep 11.

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

Author information

1
University of Oxford, NDOG, The Women's Centre, Oxford OX3 9DU, UK. joanna.poulton@obs-gyn.ox.ac.uk

Abstract

These tables list both published and a number of unpublished mutations in genes associated with early onset defects in mitochondrial DNA (mtDNA) maintenance including C10orf2, SUCLG1, SUCLA2, TYMP, RRM2B, MPV17, DGUOK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

PMID:
19748572
DOI:
10.1016/j.bbadis.2009.08.016
[Indexed for MEDLINE]
Free full text
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center