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

  title={Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).},
  author={Joanna Poulton and M Hirano and Antonella Spinazzola and Monica Arenas Hernandez and Claude Jardel and Anne Lombes and Birgit Czermin and Rita Horvath and J. W. Taanman and Agn{\'e}s Rotig and Massimo Zeviani and Carl Fratter},
  journal={Biochimica et biophysica acta},
  volume={1792 12},
These tables list both published and a number of unpublished mutations in genes associated with early onset defects in mitochondrial DNA (mtDNA) maintenance including C10orf2, SUCLG1, SUCLA2, TYMP, RRM2B, MPV17, DGUOK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 ( We have also excluded mutations in C10orf2… CONTINUE READING

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