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Human DNA Polymerase Gamma Mutation Database


Adachi, Y., Kurihara, S. et al. (2002)
A Japanese Family with Autosomal Dominant Progress External Ophthalmoplegia caused by POLG Mutation J Neurol Sci 199, S47
Agostino, A., Valletta, L., Chinnery, P.F., Ferrari, G., Carrara, F., Taylor, R.W., Schaefer, A.M., Turnbull, D.M., Tiranti, V., and Zeviani, M. (2003)
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO) Neurology 60, 1354-1356
Aitken, H., Gorman, G., McFarland, R., Roberts, M., Taylor, R., and Turnball, D. (2009)
Clinical Reasoning: Blurred vision and dancing feet: Restless legs syndrome presenting in mitochondrial disease Neurology 72, e86-e90
Aknin-Seifer, I.E., Touraine, R.L., Lejeune, H., Jimenez, C., Chouteau, J., Siffroi, J.P., McElreavey, K., Bienvenu, T., Patrat, C., and Levy, R. (2005)
Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study. Hum Reprod 20, 736-740
AlJabri, M. F., Kamal, N. M., Halabi, A., Korbi, H., Alsayyali, M., & Alzahrani, Y. A. (2018)
Lethal neonatal mitochondrial phenotype caused by a novel polymerase subunit gamma mutation: A case report. Medicine, 97(40), e12591
Amiot ,A., Tchikviladze, M., Joly, F., Slama, A., Cazals Hatem, D., Jardel, C., Messing, B., and Lombes, A. (2009)
Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction Gastroenterology, 137:101-109
Anvret, A., Westerlund, M., Sydow, O., Willows, T., Lind, C., Galter, D., and Belin, A.C. (2010)
Variations of the CAG trinucleotide repeat in DNA polymerase gamma (POLG1) is associated with Parkinson's disease in Sweden. Neuroscience Letters (2010), 485: 1147-120
Arkadir, D., Meiner, V., Karni, A., and Lossos, A. (2015)
Teaching NeuroImages: Hypertrophic olivary degeneration in a young man with POLG gene mutation Neurology. 2015 Feb 24;84(8):e59. doi: 10.1212/WNL.0000000000001287.
Ashley, N., O'Rourke, A., Smith, C., Adams, S., Gowda, V., Zeviani, M., Brown, G.K., Fratter, C., and Poulton, J. (2008)
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations Hum Mol Genet. 17, 2496-2506
Ashley, N., O'Rourke, A., Smith, C., Adams, S., Gowda, V., Zeviani, M., Brown, G.K., Fratter, C., and Poulton, J. (2009)
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations Corrigendum in Hum Mol Genet. 18, 4905-4906
Bao, X., Wu, Y., Wong, L.J., Zhang, Y., Xiong, H., Chou, PC., Truong, C.K., Jiang, Y., Qin, J., Yuan, Y., and Wu, X. (2008)
Alpers syndrome with prominent white matter changes Brain Dev 30, 295-300
Barthelemy, C., de Baulny, H.O., and Lombes, A. (2002)
D-loop mutations in mitochondrial DNA: link with mitochondrial DNA depletion? Hum Genet 110, 479-487
Baruffini, E., Horvath, R., Dallabona, C., Czermin, B., Lamantea, E., Bindoff, L., Invernizzi, F., Ferrero, I., Zeviani, M. and Lodi, T. (2011)
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model Mitochondrion, 11: 182-190
Baruffini, E., Lodi, T., Dallabona, C., Puglisi, A., Zeviani, M., and Ferrero, I. (2006)
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans Hum Mol Genet 15, 2846-2855
Bassett, J. T., Rodriguez, B., Mulligan, L., & Fontana, R. J. (2019)
Acute liver failure in a military recruit treated with valproic acid and harboring a previously unrecognized POLG-1 mutation Epilepsy & behavior reports, 12, 100342
Bekheirnia, M., Zhang, W., Eble, T., Willis, A., Shaibani, A., Wong, L., Scaglia, F., and Dhar, S. (2012)
POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3 methylglutaconic aciduria Gene 499, 209-212
Bereau, M., Anheim, M., Echaniz-Laguna, A., Magot, A., Verny, C., Goideau-Sevrain, M., Barth, M., Amati-Bonneau, P., Allouche, S., Ayrignac, X., Bedat-Millet, A., Guyant-Marechal, L., Kuntzer, T., Ochsner, F., Petiot, P., Vial, C., Omer, S., Sole, G., Tai (2016)
The wide POLG-related spectrum: an integrated view J Neurol Sci 368, 70-76
Bijarnia-Mahay, S., Mohan, N., Goyal, D., and Verma, I. (2014)
Mitochondrial DNA depletion syndrome causing liver failure Indian Pediatr. 51(8):666-8
Blok, M., Van den Busch, B., Jongen, e., Hendrickx, A., de Die-Smulders, C. Hoogendijk, J., Brusse, E., de Visser, M., Poll-The, B., Bierau, J., deCoo, I., and Smeets, H. (2009)
The unfolding clinical spectrum of POLG mutations J. Med. Genet.
Bloomberg Jenson, M., Leffers, H., Petersen, J.H., Daugaard, G., Skakkebaek, N.E., and Rajpert-De Meyts, E. (2008)
Association of the polymorphism of the CAG repeat in the mitochondrial DNA polymerase gamma gene (POLG) with testicular germ-cell cancer An Oncology 19, 1910-1914
Blázquez-Bermejo, C., Carreño-Gago, L., Molina-Granada, D., Aguirre, J., Ramón, J., Torres-Torronteras, J., Cabrera-Pérez, R., Martín, M. Á., Domínguez-González, C., de la Cruz, X., Lombès, A., García-Arumí, E., Martí, R., & Cámara, Y. (2019)
Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 33(6), 7168–7179
Bolszak, M., Anttonen, A., Komulainen, T., Hinttala, R., Pakanen, S., Sormunen, R., Herva, R., Lehesjoki, A., Majamaa, K., Rantala, H., and Uusimaa, J. (2009)
Digenic mutations in severe myoclonic epilepsy of infancy Epilepsy Research. 85, 300-304
Bortot, B., Barbi, E., Biffi, S., Lunazzi, G., Bussani, R., Burlina, A., Norbedo, S., Ventura, A., Carrozzi, M., Severini, G.M. (2009)
Two novel POLG mutations causing hepatic mitochondrial DNA depletion with recurrent hypoketotic hypoglycaemia and fatal liver dysfunction Dig Liver Dis. 41, 494-499
Bostan, A., Glibert, G.Dachy, B., and Dan, B. (2012)
Novel mutation in spacer region of POLG associated with ataxia neuropaty spectrum and gastroparesis Auton. Neurosci: Basic and Clinical 170 (2012) 70–72
Brandon, B., Diederich, N., Soni, M., White, K., Weinhhold, M., Krause, M., and Jackson, S. (2013)
Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external opthalmoplegia and Parkinsonism in two patients. J Neurol: DOI 10.1007/s00415-013-6975-2
Brunetti-Pierri, N., Selby, K., O'Sullivan, M., Hendson, G., Truong, C., Waters, P.J., Wong, L-J (2008)
Rapidly progressive neurological deterioration in a child with Alpers Snyndrome exhibiting a previously unremarkable brain MRI Neuropediatrics 39, 179-183
Brusco, A., Michielotto, C., Gatta, V., Foresta, C., Matullo, G., Zeviani, M., Ferrari, G., Dragone, E., Calabrese, G., Rossato, M., et al. (2006)
The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase gamma gene is not associated with oligozoospermia J Endocrinol Invest 29, 1-4
Burusnukul, P. and de los Reyes, E. (2009)
Phenotypic variatins in 3 children with POLG1 mutations J Child Neurol. 24, 482-486
Cardenas, J.F, and Amato, R.S (2010)
Compound heterozygous polymerase gamma gene mutation in a patient with Alpers disease Pediatr Neurol 17, 62-64
Castiglioni, C., Fattori, F., Udd, B., de los Angeles Avaris, M., Suares, B., D'Amico, A., Malandrini, A., Carrozzo, R., Verrigni, D., Bertini, E. and Tasca, G. (2018)
Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants European Journal of Human Genetics 26, 367–373
Chan, S.S.L., Longley, M.J., Naviaux, R.K., and Copeland, W.C. (2005b)
Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome DNA Repair 4, 1381-1389
Chan, S.S.L., Longley, M.J., and Copeland, W.C. (2006)
Modulation of the W748S mutation in DNA polymerase {gamma} by the E1143G polymorphism in mitochondrial disorders Hum Mol Genet 15, 3473-3483
Chan, S.S.L., Longley, M.J., and Copeland, W.C. (2005a)
The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit J Biol Chem 280, 31341-31346
Chen, B., Li, L., Wang, J., Zhou, Y., Zhu, J., Li, T., Pan, H., Liu, B., Cao, Y., & Wang, B. (2018)
Identification of the first homozygous POLG mutation causing non-syndromic ovarian dysfunction Climacteric : the journal of the International Menopause Society, 21(5), 467–471
Chiapini, F., Teicher, E., Saffroy, R., Debuire, B., Vittecoq, D., and Lemoine, A. (2009)
Relationship between polymerase gamma (POLG) polymorphisms and antiretroviral therapy-induced lipodystrophy in HIV-1 infected patients: a case-control study Current HIV Research, 7, 244-253
Ching-wan, L., Chun-yiu, L., Wai-Kwan, S., Cheuk-wing, F., Man-mut, Y., Kwai-Fun, H., Han-chih Hencher, L., and Miu Chloe, M. (2015)
Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke Clinica Chimica Acta 448, 211-214
Compton, A. G., Troedson, C., Wilson, M., Procopis, P.G., Yuan Li, F., Brundage, E.K., Yamazaki, T., Thorburn, D.R., Wong, L.C. (2011)
Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome Mitochondrion 11: 104-107
Da Pozzo, P., Cardaioli, E., Rubegni, A., Gallus, G.N., Malandrini, A., Rufa, A., Battisti, C., Carluccio, M.A., Rocchi, R., Giannini, F., Bianchi, A., Mancuso, M., Siciliano, G., Dotti M.T., and Federico, A. (2017)
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients Neurol Sci. 2017 Apr; 38(4):563-570
Dai, L. F., Fang, F., Liu, Z. M., Shen, D. M., Ding, C. H., Li, J. W., Ren, X. T., & Wu, H. S. (2019)
Phenotype and Genotype of Twelve Chinese Children With Mitochondrial DNA Depletion Syndromes Zhonghua er ke za zhi = Chinese journal of pediatrics, 57(3), 211–216
Davidzon, G., Greene, P., Mancuso, M., Klos, K.J., Ahlskog, J.E., Hirano, M., and Dimauro, S. (2006)
Early-onset familial parkinsonism due to POLG mutations Ann Neurol 59, 859-862
Davidzon, G., Mancuso, M., Ferraris, S., Quinzii, C., Hirano, M., Peters, H.L., Kirby, D., Thorburn, D.R., and Dimauro, S. (2005)
POLG mutations and Alpers syndrome Ann Neurol 57, 921-923
De Vries, M.C., Rodenburg, R.J., Morava, E., van Kaauwen, E.P., Ter Laak, H., Mullaart, R.A., Snoeck, I.N., van Hasselt, P.M., Harding, P., van den Heuvel, L.P., et al. (2007)
Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations Eur J Pediatr. 166, 229-234
Del Bo, R., Bordoni, A., Sciacco, M., Di Fonzo, A., Galbiati, S., Crimi, M., Bresolin, N., and Comi, G.P. (2003)
Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain Neurology 61, 903-908
Del Mar Amador, M., Colsch, B., Lamari, F., Jardel, C., Ichou, F., Rastetter, A., Sedel, F., Jourdan, F., Frainay, C., Wevers, R. A., Roze, E., Depienne, C., Junot, C., & Mochel, F. (2018)
Targeted versus untargeted omics - the CAFSA story J Inherit Metab Dis. 2018;41(3):447?456
Delgado-Alvarado, M., de la Riva, P., Jimenez-Urbieta, H., Gaga, B., Gabilondo, A., Bornstein, B., and Rodriguez-Oroz, M. (2015)
Parkinsonism, cognitive deficit and behavioural disturbance caused by a novel mutation in the polymerase gamma gene. J Neurol Sci .2015 Feb 11. pii: S0022-510X(15)00078-7. doi: 10.1016/j.jns.2015.02.011.
Deschauer, M., Tennant, S., Rokicka, A., He, L., Kraya, T., Turnbull, D.M., Zierz, S., and Taylor, R.W. (2007)
MELAS Associated with Mutations in the POLG1 Gene Neurology 68, 1741-1742
Dhamija, R., Moseley, B., and Wirrell, E. (2011)
Clinical Reasoning: A 10-month-old boy with myoclonic status epilepticus. Neurology: 76; e22
Di Fonzo, A., Bordoni, A., Crimi, M., Sara, G., Bo, R.D., Bresolin, N., and Comi, G.P. (2003)
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions Hum Mutat 22, 498-499
Dolhun, R., Presant, E., and Hedera, P. (2013)
Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism. BMC Neurology 13: 92
Echaniz-Laguna, A., Chassagne, M., de Seze, J., Mohr, M., Clerc-Renaud,P., Tranchant, C., Mousson de Camaret, B. (2010)
POLG1 variations presenting as Multiple Scelerosis Arch Neurol 67, 1140-1143
Ferrari, G., Lamantea, E., Donati, A., Filosto, M., Briem, E., Carrara, F., Parini, R., Simonati, A., Santer, R., and Zeviani, M. (2005)
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-{gamma}A Brain 128, 723-731
Ferreira, M., Evangelista, T., Almeida, L., Martins, J., Macario, M., martins, E., Moleirinho, A., Azedo, L.,Vilarinho, L., and Santorellli, F. (2011)
Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations J. Neuromuscular Disorders 21(7), 483-488
Filosto, M., Mancuso, M., Nishigaki, Y., Pancrudo, J., Harati, Y., Gooch, C., Mankodi, A., Bayne, L., Bonilla, E., Shanske, S., et al. (2003)
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma Arch Neurol 60, 1279-1284
Gago, M.F., Rosas, M.J., Guimaraes, J., Ferreira, M., Vilarinho, L., Castro, L., and Carpenter, S. (2006)
SANDO: Two novel mutations in POLG1 gene Neuromuscul Disord 16, 507-509
Gaudó, P., Emperador, S., Garrido-Pérez, N., Ruiz-Pesini, E., Yubero, D., García-Cazorla, A., Artuch, R., Montoya, J., & Bayona-Bafaluy, M. P. (2020)
Infectious stress triggers a POLG-related mitochondrial disease Neurogenetics, 21(1), 19–27
Gebus, O., Fleury, M., Chanson, J. B., Anheim, M., Tranchant, C., & Echaniz-Laguna, A. (2018)
Mitochondrial disease and amyloidosis in a patient with familial polyneuropathy European journal of neurology, 25(11), e118–e119
GeneSNPs (2004)
SNP Card for POLG (NIEHS, Univerisity of Utah Genome Center), pp
Giordano, C., Pichiorri, F., Blakely, E., Perli, E., Orlandi, M., Gallo, P., Taylor, R., Inghilleri, M., d'Amati, G (2010)
Isolated distal myopathy of the upper limbs associated with mitochondrial DNA depletion and polymerase gamma mutations Arch Neurol 67, 1144-1146
Giordano, C., Powell, H., Leopizzi, M., de Curtis, M., Travaglini, C., Sebastiani, M., Gallo, P., Taylor, W., d'Amati, G. (2009)
Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations Nuerology 72, 1103-1105
Gonzalez-Vioque, E., Blazquez, A., Fernandez-Moreira, D., Bornstein, B., Bautista, J., Arpa, J., Navarro, C., Campos, Y., Fernandez-Moreno, M.A., Garesse, R., et al. (2006)
Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population Arch Neurol 63, 107-111
Graziewicz, M.A., Longley, M.J., Bienstock, R.J., Zeviani, M., and Copeland, W.C. (2004)
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia Nat Struct Mol Biol 11, 770-776
Gui, Y., Xu, Z., Wen, L., Liu, H., Zhao, J., and Hu, X. (2012)
Association of Mitochndrial DNA Polymerase _ Gene POLG1 Polymorphisms with Parkinsonism in Chinese Populations. Plos One 7, Issue 12
Guldner, M., Schulte, C., Hauser, A., Gasser, T., and Brockmann, K. (2016)
Broad clinical phenotype in Parkinsonism associated with a base pair deletion in RAB39B and additional POLG variant. Parkinsonism and Related Disorders, doi: 10.1016/j.parkreldis.2016.07.005.
Gurgel-Giannetti, J., Camargos, S., Cardoso, F., Hirano, M., and DiMauro, S. (2012)
POLG1 Arg953Cys mutation: expanded phenotype and recessive inheritance in a Brazilian family Muscle and Nerve 45 (3), 453.
Hakonen, A.H., Heiskanen, S., Juvonen, V., Lappalainen, I., Luoma, P.T., Rantamaki, M., Goethem, G.V., Lofgren, A., Hackman, P., Paetau, A., et al. (2005)
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin Am J Hum Genet 77, 430-441
Hanisch, F., Kornhuber, M., Alston, C., Taylor, R., Deschauer, M., and Zierz, S. (2014)
SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions J Neurol Neurosurg Psychiatry 10.1136/jnnp-2013-306748
Harris, M.O., Walsh, L.E., Hattab, E.M., and Golomb, M.R. (2010)
Is it ADEM, POLG or both? Arch Neurol. 67, 493-496
Harris, T.P., Gomas, K.P., Weir, F., Holyoake, A.J., McHugh, P., Wu, M., Sin, Y., Sin, I.L., and Sin, F.Y. (2006)
Molecular analysis of polymerase gamma gene and mitochondrial polymorphism in fertile and subfertile men Int J Androl 29, 421-433
Harrower, T., Stewart, J. D., Hudson, G., Houlden, H., Warner, G., O'Donovan, D. G., Findlay, L., Taylor, R. W. De Silva, R., and Chinnery, P. F. (2008)
POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease Arch. Neurol 65, 133-136
Hasselmann, O., Blau, N., Ramaekers, V, Quadros, E., Sequeira, J., and Weissert, M. (2009)
Cerebral folate deficiency and CNS inflammatory markers in Alpers disease. Mol. Genet. Metab. doi:10:1016/i.vmgme.2009.08.005
Hayhurst, H., Anagnostou, M. E., Bogle, H. J., Grady, J. P., Taylor, R. W., Bindoff, L. A., McFarland, R., Turnbull, D. M., & Lax, N. Z. (2019)
Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study  Brain pathology (Zurich, Switzerland), 29(1), 97–113
Hedberg-Oldfors, C., Macao, B., Basu, S., Lindberg, C., Peter, B., Erdinc, D., Uhler, J. P., Larsson, E., Falkenberg, M., & Oldfors, A. (2020)
Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO Neurology. Genetics, 6(1), e391
Heidari, M., Houshmand, M., Hosseinkhani, S., Nafissi, S., Scheiber-Mojdehkar, B., and Khatami, M. (2008)
Association between trinucleotide CAG repeats of the DNA polymerase gene (POLG) with age of onset of Iranian Friedreich's ataxia patients Neurol Sci 29, 489-493
Henao, A., Pira, S., Herrera, D.A., Vargas, S.A., Montoya, J., and Castillo, M. (2016)
Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation. Neuroradiol J.;29(1):46-8
Hikmat, O., Naess, K., Engvall, M., Klingenberg, C., Rasmussen, M., Tallaksen, C. M., Brodtkorb, E., Ostergaard, E., de Coo, I., Pias-Peleteiro, L., Isohanni, P., Uusimaa, J., Darin, N., Rahman, S., & Bindoff, L. A. (2020)
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases Journal of inherited metabolic disease, 10.1002/jimd.12211. Advance online publication.
Hikmat, O.,Tzoulis, C., Chong, W.K., Chentouf, L., Klingenberg, N., MPhil, C., Carr, L., Prabhakar, P., Kumaraguru, N., Gissen, P., Cross, H., Jacques, T., Taanaman, J., Bindhoff, L., and Rahman, S. (2017)
The clinical spectrum and natural history of early-onset Genetics in Medicine 19; 11
Hinnell, C., Haider, S., Delamont, S., Clough, C., Hadzic, N., and Samuel, M. (2012)
diseases due to DNA polymerase gamma mutations Movement Disorders 27(1), 162-163
Hisama, F., Mancuso, M., filosto, M., and DiMauro, S. (2005)
Progressive external ophthalmoplegia: a new family with tremor and peripheral neuropathy Am J Med Genet A 135, 217-219
Hopkins, S., Somoza, A., and Gilbert, D. (2009)
Rare autosomal dominant POLG1 mutation in a family with metabolic strokes, posterior column spinal degeneration, and multi-endorcrine disease. J Child Neurol (Oct. 8, 2009 doi:10:1177)
Horst, D., Ruess, L., Rusin, J., and Bartholomew, D. (2014)
Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease J Pediatr Neurol (DOI: 10.1016/j.pediatrneurol.2014.06.015)
Horvath, R., Hudson, G., Ferrari, G., Futterer, N., Ahola, S., Lamantea, E., Prokisch, H., Lochmuller, H., McFarland, R., Ramesh, V., et al. (2006)
Phenotypic spectrum associated with mutations of the mitochondrial polymerase {gamma} gene Brain 129, 1674-1684
Hoyer, H., Braathen, G., Busk, O., Holla, O., Svendsen, M., Hilmarsen, H., Strand, L., Skjelbred, C., and Russell, M. (2014)
Genetic Diagnosis of Charcot-Marie-Tooth Disease in a population by Next-Generation Sequencing BioMed Research Internation vol. 2014
Hsieh, P. C., Wang, C. C., Tsai, C. L., Yeh, Y. M., Lee, Y. S., & Wu, Y. R. (2019)
POLG R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature review Brain and behavior, 9(5), e01281
Huang, H., Yang, X., Liu, L., & Xu, Y. (2019)
Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalomyopathy-Like Syndrome with Polymerase-Gamma Mutations Annals of Indian Academy of Neurology, 22(3), 325–327
Hudson, G., Deschauer, M., Taylor, R.W., Hanna, M.G., Fialho, D., Schaefer, A.M., He, L.-P., Blakely, E., Turnbull, D.M., and Chinnery, P.F. (2006a)
POLG1, C10ORF2 & ANT1 mutations are uncommon in sporadic PEO with multiple mtDNA deletions Neurology 66, 1439-1441
Hudson, G., Schaefer, A.M., Taylor, R.W., Tiangyou, W., Gibson, A., Venables, G., Griffiths, P., Burn, D.J., Turnbull, D.M., and Chinnery, P.F. (2006b)
Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism Arch Neurol. 64, 553-557
Hudson, G., Tiangyou, W., Stutt, A., Eccles, M., Burn, D., and Chinnery, P.F. (2009)
No association between common POLG1 variants and sporadic idiopathic Parkinson's disease. Movement Disorders, 24, 1092
Hunter, M., Peters, H., Salemi, R., Thorburn, D. and Mackay, M. (2011)
Alpers Syndrome with mutations in POLG: clinical and investigative features Pediatr Neurol 45, 311-318
Hynynen, J., Pokka, T., Komulainen-Ebrahim, J., Myllynen, P., Kärppä, M., Pylvänen, L., Kälviäinen, R., Sokka, A., Jyrkilä, A., Lähdetie, J., Haataja, L., Mäkitalo, A., Ylikotila, P., Eriksson, K., Haapala, P., Ansakorpi, H., Hinttala, R., Vieira, P., Maj (2018)
Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy Epilepsia, 59(11), 2125–2136
Inbar-Feigenberg, M., Blaser, S., Hawkins, C., Shannon, P., Hewson, S., & Chitayat, D. (2018)
Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest Metab Brain Dis. 2018;33(4):1369?1373
Invernizzi, F., Varanese, S., Thomas, A., Carrara, F., Onofrj, M., Zeviani, M. (2008)
Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism Neuromuscul Disord. 18, 460-464
Iodice, A., Ferrari, S., Pinelli, L., Molinaro, A., Spagnoli, C., Vezzoli, C., Palestra, F., and Giordano, L. (2016)
A case of Alpers-Huttenlocher Syndrome due to a new POLG1 mutation with rapid onset of partial status epilepticus: serial neuroradiological and neurophysiological evaluation J Pediatr Neurol; 14(03): 112-118
Isohanni, P., Hakonen, A., Euro, L., Paetau, I., Linnankivi, T., Wallden, T., Luostarinen, L., Valanne, L., Paetau, A., Uusimaa, J., Lonnqvist, T., Suomalainen, A., and Pihko, H. (2011)
POLG1 manifestations in childhood Neurology; 76: 811-815
Jensen, M., Leffers, H., Petersen, J.H., Nyboe Andersen, A., Jorgensen, N., Carlsen, E., Jensen, T.K., Skakkebaek, N.E., and Rajpert-De Meyts, E. (2004)
Frequent polymorphism of the mitochondrial DNA polymerase gamma gene (POLG) in patients with normal spermiograms and unexplained subfertility Hum Reprod 19, 65-70
Jerath, N. and Shy, M. (2017)
Asymmetric ataxia, depression, memory loss, epilepsy axonal neuropathy associated with a heterozygous DNA Polymeras Gamma variant of uncertain significance, c1370G>a (R457Q) J Neuromuscul Dis. 2018;5(1):99-104
Kasiviswanathan, R. and Copeland, W. (2011)
Biochemical analysis of the G517V POLG variant reveals wild-type like activity Mitochondrion, 11(6), 929-34
Kirschenbaum, D., Hedberg-Oldfors, C., Oldfors, A., Scherer, E., and Budka, H. (2017)
Distinctive cerebral neuropathology in an adult case of SANDO syndrome Neuropathology and Applied Neurobiology (
Kollberg, G., Jansson, M., Perez-Bercoff, A., Melberg, A., Lindberg, C., Holme, E., Moslemi, A.R., and Oldfors, A. (2005)
Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations Eur J Hum Genet 13, 463-469
Kollberg, G., Moslemi, A.R., Darin, N., Nennesmo, I., Bjarnadottir, I., Uvebrant, P., Holme, E., Melberg, A., Tulinius, M., and Oldfors, A. (2006)
POLG1 Mutations Associated With Progressive Encephalopathy in Childhood J Neuropathol Exp Neurol 65, 758-768
Komulainen, T. Hinttala, R., Karppa, M., Pajunen, L., Finnila, S., Tuominen, H., Rantala, H., Hassinen, I., Majamaa, K., and Uusimaa, J. (2010)
POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype BMC Neurology 10:29
Krausz, C., Guarducci, E., Becherini, L., Degl'Innocenti, S., Gerace, L., Balercia, G., and Forti, G. (2004)
The clinical significance of the POLG gene polymorphism in male infertility J Clin Endocrinol Metab 89, 4292-4297
Kurt, B., Jaeken, J., Van Hove, J., Lagae, L., Lofgren, A., Everman, D., Jayakar, P., Naini, A., Wierenga, K., Van Goethem, G., Copeland, W., and DiMauro, S.z, C., Guarducci, E., Becherini, L., Degl'Innocenti, S., Gerace, L., Balercia, G., and Forti, G. (2010)
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes Arch Neurol. 67 (2), 239-244
Kurt, B., Naini, A., Copeland, W., Lu, J., DiMauro, S., and Hirano, M. (2012)
A novel POLG gene mutation in a patient with SANDO J Exp and Integ Med. 2(2), 181-184
Lamantea, E., Tiranti, V., Bordoni, A., Toscano, A., Bono, F., Servidei, S., Papadimitriou, A., Spelbrink, H., Silvestri, L., Casari, G., et al. (2002)
Mutations of mitochondrial DNA polymerase gamma are a frequent cause of autosomal dominant or recessive Progressive External Ophthalmoplegia Ann Neurol 52, 211-219
Lamantea, E., and Zeviani, M. (2004)
Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene Ann Neurol 56, 454-455
Lax, N, Whittaker, R.., Hepplewhite, P., Reeve, A., Blakely, E., Jaros, E., Ince, P., Taylor, R., Fawcett, P., and Turnbull, D. (2011)
Sensory neuronopathy in patients harbouring recessive polymerase gamma mutations Brain 135, 62-71
Lax, N., Hepplewhite, P., Reeve, A., Nesbitt, V., McFarland, R., Jaros, E., Taylor, R., and Turnbull, D. (2012)
Cerebellar ataxia in patients with mitoch0ndrial DNA disease: a molecular clinicopathological study J Neuropathol Exp Neurol 71 (2), 148-161
Lewis, W., Day, B.J., Kohler, J.J., Hosseini, S.H., Chan, S.S.L., Green, E., Haase, C.P., Keebaugh, E., Long, R., Ludaway, T., et al. (2007)
MtDNA depletion, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase gamma J Clin Invest 87, 326-335
Li, M., Mislak, C., Foli, Y., Agbosu, E., Bose, V., Bhandari, S., Szymanski, M., Shumate,C., Whitney, Y., Anderson, K., and Paintsil, E. (2016)
The DNA polymerase gamma R953C mutant is associated with antiretroviral therapy-induce mitochondrial toxicity Antimicrobial Agents and Chemotherapy, 60 (9), 5608-5611
Lindgren, U., Roos, S., Hedberg Oldfors, C., Moslemi, A., Lindberg, C., and Oldfors, A. (2015)
Mitochondrial pathology in inclusion body myositis Neuromusculr Disorders 25, 281-288
Lovan, A., Haq, I., and Balakrishnan, N. (2013)
Diagnostic challenges in movement disorders: Sensory Ataxia Neuropathy Dysarthria and and Ophthalmoplegia (SANDO) syndrome BMJ Case Reports Aug 30;2013. pii: bcr2013010343. doi: 10.1136/bcr-2013-010343
Luoma, P., Melberg, A., Rinne, J.O., Kaukonen, J.A., Nupponen, N.N., Chalmers, R.M., Oldfors, P.A., Rautakorpi, I., Peltonen, P.L., Majamaa, P.K., et al. (2004)
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study Lancet 364, 875-882
Luoma, P.T., Eerola, J., Ahola, S., Hakonen, A.H., Hellstrom, O., Kivisto, K.T., Tienari, P.J., and Suomalainen, A. (2007)
Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease Neurology 69, 1152-1159
Luoma, P.T., Luo, N., Loscher, W.N., Farr, C.L., Horvath, R., Wanschitz, J., Kiechl, S., Kaguni, L.S., and Suomalainen, A. (2005)
Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome Hum Mol Genet 14, 1907-1920
Ma, L., Mao, W., Xu, E., Cai, Y., Wang, C., Chhetri, J. K., & Chan, P. (2020)
Novel POLG mutation in a patient with early-onset parkinsonism, progressive external ophthalmoplegia and optic atrophy The International journal of neuroscience, 130(4), 319–321
Malyarchuk, B.A., Papuga, M., Grzybowski, T., Rogozin, I.B., Wozniak, M., Derenko, M.V., Rychkov, S.Y., Czarny, J., Zakharov, I.A., and Miscicka-Sliwka, D. (2005)
Low variability of the POLG (CAG)n repeat in north Eurasian populations Hum Biol 77, 355-365
Mancuso, M., Filosto, M., Bellan, M., Liguori, R., Montagna, P., Baruzzi, A., DiMauro, S., and Carelli, V. (2004a)
POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness Neurology 62, 316-318
Mancuso, M., Filosto, M., Oh, S.J., and DiMauro, S. (2004b)
A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism Arch Neurol 61, 1777-1779
Martikainen, M., Hinttala, R., and Majamaa, K. (2010)
Novel POLG1 mutations in a patient with adult-onset progressive externalophthalmoplegia and encephalopathy BMJ Case Reports 2010; doi;10.1136/bcr.01.2010.2604
McCoy, B., Owens, C., Howley, R.., Ryan, S., King, M., Farrell, M., and Lynch, B. (2011)
Partial status epilepticus - Rapid genetic diagnosis of Alpers' disease Eur J Pediatr Neuro. 15, 558-562
McFarland, R., Hudson, G., Taylor, R.W., Green, S.H., Hodges, S., McKiernan, P.J., Chinnery, P.F., Ramesh, V. (2008)
Reversible valproate hepatotoxicity due to mutatuions in mitochondrial DNA polyermase gamma(POLG1) Arch Dis Child 93, 151-153
McHugh, J., Lonergan, R., Howley, R., O'Rourke, K., Taylor, R., Farrell, M., and Connolly, S. (2010)
Sensory ataxia neuropathy dysarthria and opthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation. Muscle and Nerve, June 2009
McKelvie, P., Marotta, R., Thorburn, D., Chin, J., Punchihewa, S., and Collins, S. (2012)
A case of myelopathy, myopathy, periperal neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations Neuromuscul Disord 22, 401-405
Mehta, A., Fox, S., Tarnoplosky, M., and Yoon, G. (2011)
Mitochondrial mimicry of multiple system atrophy of the cerebellar type Movement Disorders; 26, No. 4, 753-75
Meira, B., Roque, R., Pinto, M., & Caetano, A. (2019)
Late-onset presentation of POLG1-associated mitochondrial disease BMJ case reports, 12(3), e228482
Melberg, A., Nennesmo, I., Moslemi, A.R., Kollberg, G., Luoma, P., Suomalainen, A., Holme, E., and Oldfors, A. (2005)
Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence? Acta Neuropathol (Berl) 110, 315-316
Miguel, R., Fernandes Gago,M., Martins, J., Barros, P.,Vale, J., and Jose Rosas, M. (2014)
POLG1-related levodopa-responsive parkinsonism Clinical Neurology and Neurosurgery 126, 47-54
Milone, M., Wang, J., Liewluck, T., Chen, L., Leavitt, J., and Wong, L. (2011)
Novel POLG splice site mutation and optic atrophy Arch Neurol 68 (6), 806-811
Montassir, H., Maegaki, Y., Murayama, K., Yamazaki, T., Kohda, M., Ohtake, A., Iwasa, H., Yatsuka, Y., Okazaki, Y., Sugiura, C., Nagata, I., Toyoshima, M., Saito, Y., Itoh, M. Nishino, I., and Ohno, K. (2014)
Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report Brain Dev. 2014 Nov 18. pii: S0387-7604(14)00261-7. doi: 10.1016/j.braindev.2014.10.013.
Mukai, M., Sugaya, K., Yabe, I., Goto, Y., Yokochi, F., Miyamoto, K., Cai, H., Sasaki, H. and Matsubara, S. (2013)
Neuromelanin MRI in a family with mitochondrial parkinsonism harboring a Y955C mutation in POLG1 Parkinsonism and Related Disorders 19 (2013) 821-824.
Naess, K., Barbaro, M., Bruhn, H., Wibom, R., Nennesmo, I., von Dobeln, U., Larsson, N., Nemeth, Al, and Lesko, N. (2012)
Complete deletion of a POLG1 allel in a patient with Alpers Syndrome JIMD Rep. 2012; 4: 67–73
Naess, K., Freyer, C., Bruhn, H., Wibom, R., Malm, G., Nennesmo, I., von Dobeln, U., and Larsson, N. (2009)
MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome Biochimica et Biophysica Acta 1787, 484-490
Naimi, M., Bannwarth, S., Procaccio, V., Pouget, J., Desnuelle, C., Pellissier, J.F., Rotig, A., Munnich, A., Calvas, P., Richelme, C., et al. (2006)
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay Eur J Hum Genet. 14, 917-922
Navarro-Sastre, A., Tort, F., Garcia-Villoria, J., Pons, M., Nascimento, A., Colomer, J., Campistol, J., Yoldi, M., Lopez-Gallardo, E., Montoya, J., Unceta, M., Martinez, M., Briones, P., and Ribes, A. (2012)
Mitochondrial DNA depleton syndrome: New descriptions and the use of citrate synthase as a helpful tool to better characterise the patients Mol Genet Metab 107(3), 409-15
Naviaux, R.K., and Nguyen, K.V. (2004)
POLG Mutations associated with Alpers' Syndrome and Mitochondrial DNA Depletion Ann Neurol 55, 706-712
Naviaux, R.K., and Nguyen, K.V. (2005)
POLG Mutations associated with Alpers' Syndrome and Mitochondrial DNA Depletion Ann Neurol 58, 491
Neeve VC1, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Tur (2012)
What is influencing the phenotype of the common homozygous polymerase-_ mutation p.Ala467Thr? Brain, 135(Pt 12):3614-26
Ng, Y.S., Powell, H, Hoggard, N., Turnbull, D., Taylor, R., and Hadjivassiliou, M. (2017)
Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia Neurol Genet, 3:e181; doi: 10.1212/ NXG.0000000000000181
Nguyen, K.V., Ostergaard, E., Ravn, S.H., Balslev, T., Danielsen, E.R., Vardag, A., McKiernan, P.J., Gray, G., and Naviaux, R.K. (2005)
POLG Mutations in Alpers Syndrome Neurology 65, 1493-1495
Nguyen, K.V., Sharief, F., Chan, S.S.L., Copeland, W.C., and Naviaux, R.K. (2006)
Molecular Diagnosis of Alpers Syndrome J Hepatology 45, 108-116
Nicastro, N., Ranza, E., Antonarakis, S., and Horvath, J. (2016)
Pure progressive ataxia and palatal tremor (PAPT) associated with a new polymerase gamma (POLG) mutation Cerebellum 15, 829-831
Nolte, K., Trepels-Kottek, S., Honnef, D., Weis, J., Bien, C., van Baalen, A., Ritter, K., Czermin, B., Rudnik-Schoneborn, S., Wagner, N., and Hausler, M. (2013)
Early muscle and brain ultrastructural changes in plymerase gamma 1 related encephalomyopathy Neuropathology 33, 59-67
Nowak, R., Zub, R., Skoneczna, I., Sikora, K., and Ligaj, M. (2005)
CAG repeat polymorphism in the DNA polymerase {gamma} gene in a Polish population: an association with testicular cancer risk Ann Oncol 16, 1211-1212
Ohba, Chihiro, Osaka, H., Iai, M., Yamashita, S., Suzuki, Y., Aida, N., Shimozawa, N.,Takamura, A., Doi, H., Tomita-Katsumoto, A., Nishiyama, K., Tsurusaki, Y.,Nakashima, M., Tsurusaki Y., Nakashima, M. Miyake, N., Eto, Y., Tanaka, F., matsumoto, N., and (2013)
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. NeuroGen 14, 225-232
Pagnamenta, A.T., Taanman, J.W., Wilson, C.J., Anderson, N.E., Marotta, R., Duncan, A.J., Bitner-Glindzicz, M., Taylor, R.W., Laskowski, A., Thorburn, D.R., et al. (2006)
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma Hum Reprod 21, 2467-2473
Palin, E., Hakonen, A., Korpela, M., Paetau, A., and Suamalainen, A. (2012)
Mitochondrial recessive ataxia syndrome mimicking dominant spinocerebellar ataxia J Neurol Sci 315, 160-163
Paramasivam, A., Venkatapathi, C., Sandeep, G., Meena, A. K., Uppin, M. S., Mohapatra, S., Pitceathly, R., & Thangaraj, K. (2019)
Homozygous R627W mutations in POLG cause mitochondrial DNA depletion leading to encephalopathy, seizures and stroke-like episodes Mitochondrion, 48, 78–83
Paucar, M., Engvall, M., Gordon, L., Tham, E., Synofzik, M., and Svenningsson, P. (2016)
POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome. Cerebellum, DOI 10.1007/s12311-016-0777-x
Pauly, M. G., Tunc, S., Bäumer, T., Gillessen-Kaesbach, G., & Münchau, A. (2019)
Twitching and Stiffness in POLG1 Mutation Carriers: Red Flag or Red Herring? Movement disorders clinical practice, 7(1), 91–93
Phillips, J., Courel, S., Rebelo, A. P., Bis-Brewer, D. M., Bardakjian, T., Dankwa, L., Hamedani, A. G., Züchner, S., & Scherer, S. S. (2019)
POLG mutations presenting as Charcot-Marie-Tooth disease Journal of the peripheral nervous system : JPNS, 24(2), 213–218
Ponamarev, M.V., Longley, M.J., Nguyen, D., Kunkel, T.A., and Copeland, W.C. (2002)
Active Site Mutation in DNA Polymerase gamma Associated with Progressive External Ophthalmoplegia Causes Error-prone DNA Synthesis J Biol Chem 277, 15225-15228
Posada, I., Gallardo, M., Dominguez, C., Rivera, H., Cabello, A., Arenas, J., Martin, M., Garesse, R., and Bornstein B. (2010)
Mitochondrial DNA depletion and polg mutations in a patient with sensory ataxia, dysarthria, and opthalmoplegia Med Clin (Barc) 135: 452-455
Prasun, P. and Koeberl, D. (2014)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation J Neurol 261(9):1818-9
Pronicki, M., Piekutowska-Abramczuk, D., Rokicki, D., Iwanicka-Pronicka, K., & Grajkowska, W. (2018)
Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis Polish journal of pathology : official journal of the Polish Society of Pathologists, 69(3), 292–298
Puusepp, S., Reinson, K., Pajusalu, S., Murumets, Ü., Õiglane-Shlik, E., Rein, R., Talvik, I., Rodenburg, R. J., & Õunap, K. (2018)
Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia Molecular genetics and metabolism reports, 15, 80–89
Rajakulendran, S., Pitceathly, R.D.S.,Taanman, J., Costello, H.,Sweeney, M.G.,Woodward, C.E., Jaunmuktane, Z., Holton, J.L., Jacques, T.S., Harding, B.N., Fratter, C., Hanna, M.G. and Rahman, S. (2016)
A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-related Mitochondrial Disease PLOS ONE 11 (1): DOI:10.1371/journal.pone.0145500 Jan. 6, 2016
Reichenbach, J., Schubert, R., Horvath, R., Petersen, J., Futterer, N., Malle, E., Stumpf, A., Gebhardt, B.R., Koehl, U., Schraven, B., et al. (2006)
Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency Pediatr Res 60, 321-326
Remes, A., Hinttala, R., Karppa, M. Soini, H., Takalo, R., Uusimaa, J., and Majamaa, K. (2009)
Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene Parkinsonism and Related Disorders 14, 652-654
Rempe, T., Kuhlenbäume, G., Krüge,r S., Biskup, S., Matschke, J., Hagel, C., Deuschl, G., and van Eimeren, T. (2016)
Early-onset parkinsonism due to compound heterozygous POLG mutations. Parkinsonism and Related Disorders (2016)
Richter, J.E., Robles, H.G., Mauricio, E., Mohammad, A., Atwal, P.S., and Caulfield, T.R. (2018)
Protein molecular modeling shows residue T599 is critical to wild-type functon of POLG and description of novel variant associated with the SANDO phenotype Human Genome Variation 5, 18016 doi:10.1038/hgv.2018.16
Roels, F., Verloo, P., Eyskens, F., Francois, B., Seneca, S., De Paepe, B., Martin, J., Meersschaut, V., Praet, M., Scalais, E., Espeel, M. Smet, J., Van Goethem, G., Van Coster, R. (2009)
Mitochondrial mosaics in the liver of 3 infants with mtDNA defects BMC Clinical Pathology, 9:4
Roos, S., Macao, B., Fuste, J.M., Lindberg, C., Jemt, E., Hoome, E., Moslemi, A., Oldfors, A., and Falkenberg, M. (2013)
Subnormal levels of Pol gamma A cause inefficeint initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and autosomal dominant progressive external ophthalmoplegia Hum Mol Genet 22, 2411-2422
Ropp, P.A., and Copeland, W.C. (1996)
Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma Genomics 36, 449-458
Roshal, D., Glosser, D., and Zangaladze, A. (2011)
Parieto-occipital epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype Epilepsy and Behavior 21, 206-210
Rouzier C, Chaussenot A, Serre V, Fragaki K, Bannwarth S, Ait-El-Mkadem S, Attarian S, Kaphan E, Cano A, Delmont E, Sacconi S, de Camaret BM, Rio M, Lebre AS, Jardel C, Deschamps R, Richelme C, Pouget J, Chabrol B, and Paquis-Flucklinger V. (2013)
Quantitative multiplex PCR of short fluorscent fragments for the detection of large intragenic POLG rearrangements in a large French cohort Eur J Hum Genet 171, 1-9
Rovio, A.T., Marchington, D.R., Donat, S., Schuppe, H.C., Abel, J., Fritsche, E., Elliott, D.J., Laippala, P., Ahola, A.L., McNay, D., et al. (2001)
Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility Nat Genet 29, 261-262
Santoro, L., Manganelli, F., Lanzillo, R., Tessa, A., Barbieri, F., Pierelli, F., Di Giacinto, G., Nigro, V., and Santorelli, F.M. (2006)
A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy J Neurol 253, 869-874
Sarzi, E., Bourdon, A., Chretien, D., Zarhrate, M., Corcos, J., Slama, A., Cormier-Daire, V., de Lonlay, P., Munnich, A., and Rotig, A. (2007)
Mitochondrial DNA depleion is a prevalent cause of multiple repiratory chain deficiency in childhood J Pediatr 150, 531-534. e1-6
Sato, K., Yabe, I., Yaguchi, H., Nakano, F., Kunieda, Y., Saitoh, S. and Hidenao, S. (2011)
Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism J Neurol 258, 1327-1332
Scalais, E., Francois, B., Schlesser, P., Stevens, R., Nuttin, C., Martin, J., Van Coster, R., Seneca, S., Roels, F., Van Goethem, G., Lofgren, A., and Meirleir, L. (2012)
Polymerase gamma deficiency (POLG): Clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy Eur J Pediatr Neuro. 16(5), 542-8
Schaller, A., Hahn, D., Jackson, C., Kern, I., Chardot, C., Belli, D., Gallati, S., and Nuoffer, J. (2011)
Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome BMC Neurology 11:4
Schulte, C., Synofzik, M., Gasser, T., and Shols, L. (2009)
Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations. Neurology 73, 898.
Scuderi, C., Borgione, E., Castello, F., Giudice, M., Paola, S., Giambirtone, M., Di Blasi, F., Elia, M., Amato, C., Citta, S., Gagliano, C., Barbarino, G., Vitello, G., and Musumeci, S. (2015)
The in cis T251I and P587L POLG1 base changes: description of a new family and literature review Neuromuscul Disord. pii: S0960-8966(15)00023-1. doi: 10.1016/j.nmd.2015.01.004.
Shinagawa, A., Hugdal, S., Babu, J., & Rangaswamy, R. (2020)
Progressive cavitating leukoencephalopathy associated with a homozygous POLG mutation of 264C>G (p.F88L) Radiology case reports, 15(7), 908–913
Sidiropoulos, C., Moro, E., and Lang, A. (2013)
Extensive intracranial calcifications in a patient with a novel polymerase gamma-1 mutation. Neurology 81, 197-198
Siibak, T., Clemente, P., Bratic, A., Bruhn, H., Kauppila, T.E.S., Macao, B., Schober, F.A., Lesko, N., Wibom, R., Naess, K., Nennesmo, I., Wedell, A., Peter, B., Freyer, C., Falkenberg, M., and Wredenberg, A. (2017)
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma. Hum Mol Genet. 26(13), 2515-2525
Singh, K., Ayyasamy, V., Owens, K., Sapru Koul, M., and Vujcic, M. (2009)
Mutations in mitochondrial DNA polymerase-gamma promote breast tumorigenesis J Human Genetics 54, 516-524
Sitarz, K., Elliott, H., Karaman, B., Relton, C., Chinnery, P., and Horvath, R. (2014)
Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient firbroblasts Mol. Genet. Metab. 2014 May;112(1):57-63. doi: 10.1016/j.ymgme.2014.03.006
SoRelle, J. A., Pascual, J. M., Gotway, G., & Park, J. Y. (2020)
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy JAMA network open, 3(4), e203812
Sofou, K., Ali-Reza, M., Kollberg, G., Bjarnadottir, I.,Oldfors, A., Nennesmo, I., Home, E., Tulinius, M., and Darin, N. (2012)
Phenotypic and genotypic variablility in Alpers syndrome Eur J Pediatr Neuro. 16 , 379-389
Sonam, K., Bindu, P.S., Bharath, M.M.S., Govindaraj, P., Gayathri, N., Arvinda, H.R.A., Chiplunkar, S., Nagappa, M., Sinha, S., Khan, N.A., Nunia, V., Paramasivam, A., Thangaraj, K., and Taly, A. (2017)
Mitochondrial oxidative phosphorylation disorders in children: Phenotypic, genotypic and biochemical correlations in 85 patients from South India. Mitochondrion, 32: 42-49
Spinazzola, A., Invernizzi, F., Carrara, F., Lamantea, E., Donati, A., DiRocco, M., Giordano, I., Meznaric-Petrusa, M., Baruffini, E., Ferrero, I., Zeviani, M. (2009)
Clinical and molecular features of mitochondrial DNA depletion syndromes J. Inhert Metab Dis. 32, 143-158
Staropoli, J., Xin, W., Barone, R., Cotman, S., and Sims, K. (2012)
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variabley penetrant POLG1 mutation BMC Medical Genetics 13:50
Stewart, J., Horvath, R.,Baruffini, E.,Ferrero, I., Bulst, S., Watkins, P.., Fontana, R., Day, C., and Chinnery, P. (2010)
Polymerase gamma gene POLG determines the risk of sodium valproate-induced liver toxicity Hepatology; 52: 1791-1796
Stewart, J.D., Tennant, S., Powell, H., Pyle, A., Blakely, E.L., He, L., Hudson, G., Roberts, M., du Plessis, D., Gow, D., Mewasingh, L.D., Hannah, M.G., Omer, S., Morris, A.A., Roxburgh, R., Livingston, J.H., McFarland, R., Turnbull, D.M., Chinnery, P.F. (2009)
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children J. Med Genet 46, 209-214
Stopinska, K., Grzybowski, T., Malyarchuk, B.A., Derenko, M.V., and Miscicka-Sliwka, D. (2006)
Optimization of the Y831C mutation detection in human DNA polymerase gamma by allelic discrimination assay Acta Biochim Pol 53, 591-593
Stricker, S., Pruss, H., Horvath, R., Baruffini, E., Lodi, T., Siebert, E., Endres, M., Zschenderlein, R., and Meisel, A. (2009)
A variable neurodegenerative phenotype with polymerase _ mutation. J Neruol Neurosurg Psychiatry, 80, 10.
Stuart, G.R., Santos, J.H., Strand, M.K., Van Houten, B., and Copeland, W.C. (2006)
Mitochondrial DNA defects in S. cerevisiae with mutations in DNA polymerase gamma associated with Progressive External Ophthalmolplegia Hum Mol Genet 15, 363-374
Taanman, J.W., Rahman, S., Pagnamenta, A.T., Morris, A.A.M., Bitner-Glindzicz, M., Wolf, N.I., Leonard, J.V., Clayton, P.T., Schapira, A.H.V. (2008)
Analysis of mutant DNA Polymerase gamma in patients with mitochndrial DNA depletion Human Mutation 30, 248-254
Tang, S., Dimberg, E., Milone, M., and Wong, L. (2012)
Mitochondrial neruogastrointesetinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations J Neruol 259, 862-868
Tang, S., Wang, J., Lee, N., Milone, M., Halberg, M., Schmitt, E., Craigen, W., Zhang, W., and Wong, L. (2011)
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum J Med Genet. 48: 669-681
Tiangyou, W., Hudson, G., Ghezzi, D., Ferrari, G., Zeviani, M., Burn, D.J., and Chinnery, P.F. (2006)
POLG1 in idiopathic Parkinson disease Neurology 67, 1698-1700
Tuladhar, A., Meijer, F., and va de Warrenburg, B. (2012)
POLG mutation presenting with late-onset jerky torticollis J Neurol
Tzoulis, C., Engelsen, B.A., Telstad, W., Aasly, J., Zeviani, M., Winterthun, S., Ferrari, G., Aarseth, J.H., and Bindoff, L.A. (2006)
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases Brain 129, 1685-1692
Tzoulis, C., Neckelmann, G., Mork, S., Engelsen, B., Viscomi, C., Moen, G., Ersland, L., Zeviani, M., Bindoff, L. (2010)
Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes Brain 133, 1428-1437
Tzoulis, C., Papingji, M. Fiskestrand, T., Roste, L., and Bindoff, L. (2009)
Mitochondrial DNA depeletion in progressive external ophthalmoplegia caused by POLG1 mutations Acta Neurol Scand, selected articles from the Annual Meeting of the Norwegian Neurological Assoc., November 2008, s189
Tzoulis, C., Schwarzlmüllerc, T., Biermann, M., Haugarvolla, K., and Bindoff, L.A., (2016)
Mitochondrial DNA homeostasis is essential for nigrostriatal integrity. Mitochondrion. 2016 May;28:33-7.
Tzoulis, C., Tran, G., Coxhead, J., Bertelsen, B., Lilleng, P., Balafkan, N., Payne, B., Miletic, H., Chinnery, P. and Bindoff, L. (2014)
Molecular pathogenesis of polymerase gamma-related neurodegeneration Ann Neurol 76 (1): 66-82
Tzoulis, C., Tran, GT., Schwarzlmuller, T., Specht, K., Haugarvoll, K., Balafkan, N., Lilleng, P., Miletic, H., Biermann, M., and Bindoff, L. (2013)
Severe nigrostriatal degeneration without clinical parkinsonism in patients with plymerase gamma mutations. Brain 136, 2393-2404
Uusimaa, J., Hinttala, R., Rantala, H., Paivarinta, M., Herva, R., Roytta, M., Soini, H., Moilanen, J., Remes, A., Hassinen, I., and Majamaa, K. (2008)
Homozygous W748S mutation in the POLGI gene in patients with juvenile-onset Alpers syndrome and status epilepticus Epilepsia 49, 1038-1045
Van Goethem, G., Dermaut, B., Lofgren, A., Martin, J.J., and Van Broeckhoven, C. (2001)
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions Nat Genet 28, 211-212
Van Goethem, G., Luoma, P., Rantamaki, M., Al Memar, A., Kaakkola, S., Hackman, P., Krahe, R., Lofgren, A., Martin, J.J., De Jonghe, P., et al. (2004)
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement Neurology 63, 1251-1257
Van Goethem, G., Martin, J.J., Dermaut, B., Lofgren, A., Wibail, A., Ververken, D., Tack, P., Dehaene, I., Van Zandijcke, M., Moonen, M., et al. (2003a)
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia Neuromuscul Disord 13, 133-142
Van Goethem, G., Mercelis, R., Lofgren, A., Seneca, S., Ceuterick, C., Martin, J.J., and Van Broeckhoven, C. (2003b)
Patient homozygous for a recessive POLG mutation presents with features of MERRF Neurology 61, 1811-1813
Van Goethem, G., Schwartz, M., Lofgren, A., Dermaut, B., Van Broeckhoven, C., and Vissing, J. (2003c)
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy Eur J Hum Genet 11, 547-549
Vasta, V., Merritt J., Snaeto, R., and Hanhn, S. (2012)
Next-generation sequencing for mitochondrial diseases: A wide diagnostic spectrum Pediatr Intern 54, 585-601
Verhoeven, W.M., Egger, J.I., Kremer, B.P., de Pont, B.J., and Marcelis, C.L. (2011)
Recurrent major depression, ataxia, and cardiomyopathy: association with a novel POLG mutation? Neuropsychiatric Disease and Treatment: 7, 293-296
Vinjam, M., Newby, R., and Davey, R. (2015)
A mitochondrial malady: stubborn seizures and atypical migraine. J R Coll Physicians Edinb., 45(4), 281-3.
Vogel, A., Rommel, N., Oettinger, A., Horger, M., Krumm, E., Schols, L., and Synofzik, M. (2017)
Speech and swallowing abnormalities in adults with POLG associated ataxia (POLG-A) Mitochondrion S1567-7249(16)30261-6. doi: 10.1016/j.mito.2017.06.002
Wang, Y., Du, X., Binn R., Yu, S., Xia, Z., Zheng, G., Zhong, J., Zhang, Y., Jiang, Y., and Wang, Yi. (2017)
Genetic Variants Identi ed from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing Nature Scientific Reports | 7:40319 | DOI: 10.1038/srep40319
Wanrooij, S., Luoma, P., van Goethem, G., van Broeckhoven, C., Suomalainen, A., and Spelbrink, J.N. (2004)
Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA Nucleic Acids Res 32, 3053-3064
Weiss, M.D. and Saneto, R.P. (2010)
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations Muscle and Nerve 41, 882-885
Wiltshire, E., Davidzon, G., DiMauro, S., Ackman, H., Sadleir, L., Haas, L., Zuccollo, J., McEwen, A., and Thorburn, D. R. (2008)
Juvenile Alpers Disease Archives of Neurology, 65, 121-124
Winterthun, S., Ferrari, G., He, L., Taylor, R.W., Zeviani, M., Turnbull, D.M., Engelsen, B.A., Moen, G., and Bindoff, L.A. (2005)
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations Neurology 64, 1204-1208
Wong, L., Naviaux, R., Brunetti-Pierri, N., Zhang, Q., Schmitt, E., Truong, C., Milone, M., Cohen, B., Wical, B., Ganesh, J., Basinger, A., Burton, B., Swoboda, K., Gilbert, D., Vanderver, A., Saneto, R., Maranda, B., Arnold, G., Abdenur, J., Waters, P., (2008)
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations Human Mutation in brief #1020, 29:E150-E172
Woodbridge, P., Liang, C., Davis, R., Vandebona, H., and Sue, C. (2012)
POLG mutations in Australian patients with mitochondrial disease Int Med J. May 30. doi: 10.1111/j.1445-5994.2012.02847.x.
Yamanaka, H., Gatanaga, H., Kosalaraksa, P., Matsuoka-Aizawa, S., Takahashi, T., Kimura, S., and Oka, S. (2007)
Novel Mutation of Human DNA Polymerase gamma Associated with Mitochondrial Toxicity Induced by Anti-HIV Treatment J Infect Dis 195, 1419-1425
Yasuda, K., Murase, N., Yoshinaga, K., Ohtani, R., Goto, Y. I., Takahashi, R., & Nakamura, M. (2019)
Leukoencephalopathy with a case of heterozygous POLG mutation mimicking mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia, 61, 302–304
Zabalza, R., Nurminen, A., Kaguni, L., Garesse, R., Gallardo, M.E., and Bornstein, B. (2014)
Co-occurrence of four nucleotide changes associated with an adult mitochondrial ataxia phenotype BMC Research Notes, 7:883
Zhang, J., Jiang, W., Zhou,Q., Ni, Q., Liu, S., Zhu, P., Wu, Q., Li,W., Zhang, M., and Xia, X. (2015)
CAG-repeat polymorphisms in the polymerase _ gene and male infertility: a meta-analysis Andrologia, DOI: 10.1111/and.12526
Zsurka, G., Baron, M., Stewart, J., Kornblum, C., Bos, M., Sassen, R., Taylor, R., Elger, C., Chinnery, P., Kunz, W. (2008)
Clonally Expanded Mitochondrial DNA Mutations in Epileptic Individuals with Mutated DNA Polymerase gamma J. Neuropathol Exp Neurol 67, 857-866
de Camaret, B.M., Chassagne, M., Mayencon, M., Padet, S., Crehalet, H., Clerc-Renaud, P., Rouvet, I.,Zabot, M., Rivier, F., Sarda, P., des Portes, V., and Bozon, D. (2011)
POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome. Mitochondrion 11: 223-227
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