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

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

Research output: Contribution to journalArticlepeer-review

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These tables list both published and a number of unpublished mutations in genes associated with early onset defects in mitochondrial DNA (mtDNA) maintenance including C10orf2, SUCLG1, SUCLA2, TYMP, RRM2B, MPV17, DGUOK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

Original languageEnglish
Pages (from-to)1109-1112
Number of pages4
JournalBiochimica et Biophysica Acta - Molecular Basis of Disease
Volume1792
Issue number12
DOIs
Publication statusPublished - Dec 2009

Keywords

  • C10orf2
  • DGUOK
  • MPV17
  • mtDNA
  • mtDNA depletion
  • RRM2B
  • SUCLA2
  • SUCLG1
  • TK2
  • TYMP

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine

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