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

doi:10.1016/j.bbadis.2009.08.016

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

Fondazione IRCCS Istituto Neurologico "C. Besta"

Research output: Contribution to journal › Article › peer-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These tables list both published and a number of unpublished mutations in genes associated with early onset defects in mitochondrial DNA (mtDNA) maintenance including C10orf2, SUCLG1, SUCLA2, TYMP, RRM2B, MPV17, DGUOK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 language	English
Pages (from-to)	1109-1112
Number of pages	4
Journal	Biochimica et Biophysica Acta - Molecular Basis of Disease
Volume	1792
Issue number	12
DOIs	https://doi.org/10.1016/j.bbadis.2009.08.016
Publication status	Published - 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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10.1016/j.bbadis.2009.08.016

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Poulton, J., Hirano, M., Spinazzola, A., Arenas Hernandez, M., Jardel, C., Lombès, A., Czermin, B., Horvath, R., Taanman, J. W., Rotig, A., Zeviani, M., & Fratter, C. (2009). Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). Biochimica et Biophysica Acta - Molecular Basis of Disease, 1792(12), 1109-1112. https://doi.org/10.1016/j.bbadis.2009.08.016

Poulton, J, Hirano, M, Spinazzola, A, Arenas Hernandez, M, Jardel, C, Lombès, A, Czermin, B, Horvath, R, Taanman, JW, Rotig, A, Zeviani, M & Fratter, C 2009, 'Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1)', Biochimica et Biophysica Acta - Molecular Basis of Disease, vol. 1792, no. 12, pp. 1109-1112. https://doi.org/10.1016/j.bbadis.2009.08.016

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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.",

keywords = "C10orf2, DGUOK, MPV17, mtDNA, mtDNA depletion, RRM2B, SUCLA2, SUCLG1, TK2, TYMP",

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AU - Arenas Hernandez, M.

AU - Jardel, C.

AU - Lombès, A.

AU - Czermin, B.

AU - Horvath, R.

AU - Taanman, J. W.

AU - Rotig, A.

AU - Zeviani, M.

AU - Fratter, C.

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

Abstract

Keywords

ASJC Scopus subject areas

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