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

TitleCollated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
Publication TypeJournal Article
Year of Publication2009
AuthorsPoulton, J, Hirano, M, Spinazzola, A, M Hernandez, A, Jardel, C, Lombès, A, Czermin, B, Horvath, R, Taanman, JW, Rotig, A, Zeviani, M, Fratter, C
JournalBiochim Biophys Acta
Volume1792
Issue12
Pagination1109-12
Date Published2009 Dec
ISSN0006-3002
KeywordsDNA, Mitochondrial, Genes, Mitochondrial, Humans, Mitochondrial Diseases, Mutation, Syndrome
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These tables list both published and a number of unpublished mutations in genes associated with early onset defects in mitochondrial DNA (mtDNA) maintenance including C10orf2, SUCLG1, SUCLA2, TYMP, RRM2B, MPV17, DGUOK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.

DOI10.1016/j.bbadis.2009.08.016
Alternate JournalBiochim. Biophys. Acta
Citation Key10.1016/j.bbadis.2009.08.016
PubMed ID19748572
Grant ListG0500695 / / Medical Research Council / United Kingdom
GGP07019 / / Telethon / Italy