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Human DNA Polymerase gamma Mutation Database

Reference

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
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
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
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., Taieb, G., Carvalho, N., Tio, G., Kremer, S., Acquaviva-Bourdain, C., Mousson de Camaret, B., and Tranchant, C. (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
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
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
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
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
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
GeneSNPs (2004)
SNP Card for POLG (NIEHS, Univerisity of Utah Genome Center), pp http://www.genome.utah.edu/genesnps/
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 γ 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
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.,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
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
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
Kasiviswanathan, R. and Copeland, W. (2011)
Biochemical analysis of the G517V POLG variant reveals wild-type like activity Mitochondrion, 11(6), 929-34
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
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
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