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

Research paper by J J Poulton, M M Hirano, A A Spinazzola, M M Arenas Hernandez, C C Jardel, A A Lombès, B B Czermin, R R Horvath, J W JW Taanman, A A Rotig, M M Zeviani, C C Fratter

Indexed on: 15 Sep '09Published on: 15 Sep '09Published in: Biochimica et biophysica acta


These tables list both published and a number of unpublished mutations in genes associated with early onset defects in mitochondrial DNA (mtDNA) maintenance including C10orf2, SUCLG1, SUCLA2, TYMP, RRM2B, MPV17, DGUOK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