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Bibliography: Large Deletions in the Human mtDNA

Abnet, C. C., Huppi, K., Carrera, A., Armistead, D., McKenney, K., Hu, N., Tang, Z. Z., Taylor, P. R. and Dawsey, S. M. (2004). "Control region mutations and the 'common deletion' are frequent in the mitochondrial DNA of patients with esophageal squamous cell carcinoma." BMC Cancer 4:30.

Ait-Aissa, K., Blaszak, S. C., Beutner, G., Tsaih, S. W., Morgan, G., Santos, J. H., Flister, M. J., Joyce, D. L., Camara, A. K. S., Gutterman, D. D., Donato, A. J., Porter, G. A., Jr. and Beyer, A. M. (2019). "Mitochondrial Oxidative Phosphorylation defect in the Heart of Subjects with Coronary Artery Disease." Sci Rep 9(1):7623.

Akiyama, S., Endo, H., Inohara, N., Ohta, S. and Kagawa, Y. (1994). "Gene structure and cell type-specific expression of the human ATP synthase alpha subunit." Biochim Biophys Acta 1219(1):129-140.

Alonso-Montes, C., Castro, M. G., Reguero, J. R., Perrot, A., Ozcelik, C., Geier, C., Posch, M. G., Moris, C., Alvarez, V., Ruiz-Ortega, M. and Coto, E. (2008). "Mitochondrial transcription factors TFA, TFB1 and TFB2: a search for DNA variants/haplotypes and the risk of cardiac hypertrophy." Dis Markers 25(3):131-139.

Ambulkar, P. S., Chuadhari, A. R. and Pal, A. K. (2016). "Association of large scale 4977-bp "common" deletions in sperm mitochondrial DNA with asthenozoospermia and oligoasthenoteratozoospermia." J Hum Reprod Sci 9(1):35-40.

Anan, R., Nakagawa, M., Miyata, M., Higuchi, I., Nakao, S., Suehara, M., Osame, M. and Tanaka, H. (1995). "Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defect [see Comment: Circulation 15:91(4):1266-1268]." Circulation 91(4):955-961.

Andreu, A. L., Hanna, M. G., Reichmann, H., Bruno, C., Penn, A. S., Tanji, K., Pallotti, F., Iwata, S., Bonilla, E., Lach, B., Morgan-Hughes, J. and DiMauro, S. (1999). "Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA." N Engl J Med 341(14):1037-1044.

Arai, T., Nakahara, K., Matsuoka, H., Sawabe, M., Chida, K., Matsushita, S., Takubo, K., Honma, N., Nakamura, K., Izumiyama, N. and Esaki, Y. (2003). "Age-related mitochondrial DNA deletion in human heart: its relationship with cardiovascular diseases." Aging Clin Exp Res 15(1):1-5.

Aral, C., Akkiprik, M., Kaya, H., Ataizi-Celikel, C., Caglayan, S., Ozisik, G., Baloglu, H. and Ozer, A. (2010). "Mitochondrial DNA common deletion is not associated with thyroid, breast and colorectal tumors in Turkish patients." Genet Mol Biol 33(1):1-4.

Arck, P. C., Overall, R., Spatz, K., Liezman, C., Handjiski, B., Klapp, B. F., Birch-Machin, M. A. and Peters, E. M. (2006). "Towards a "free radical theory of graying": melanocyte apoptosis in the aging human hair follicle is an indicator of oxidative stress induced tissue damage." FASEB J 20(9):1567-1569.

Arenas-Pinto, A., Weller, I., Ekong, R., Grant, A., Karstaedt, A., Reiss, P., Telisinghe, L., Weber, R., Bolhaar, M., Bradman, N. and Ingram, C. (2012). "Common inherited mitochondrial DNA mutations and nucleoside reverse transcriptase inhibitor-induced severe hyperlactataemia in HIV-infected adults: an exploratory study." Antivir Ther 17(2):275-282.

Arenas, J., Campos, Y. and Martin, M. A. (1995). "[Molecular genetics of mitochondrial cytopathologies]." Neurologia 10 Suppl 1:44-49.

Ascaso, F. J., Lopez-Gallardo, E., Del Prado, E., Ruiz-Pesini, E. and Montoya, J. (2010). "Macular lesion resembling adult-onset vitelliform macular dystrophy in Kearns-Sayre syndrome with multiple mtDNA deletions." Clin Exp Ophthalmol 38(8):812-816.

Awata, T., Matsumoto, T., Iwamoto, Y., Matsuda, A., Kuzuya, T. and Saito, T. (1993). "Japanese case of diabetes mellitus and deafness with mutation in mitochondrial tRNALeu(UUR) gene." Lancet 341(8855):1291-1292.

Ayed, I. B., Chamkha, I., Mkaouar-Rebai, E., Kammoun, T., Mezghani, N., Chabchoub, I., Aloulou, H., Hachicha, M. and Fakhfakh, F. (2011). "A Tunisian patient with Pearson syndrome harboring the 4.977kb common deletion associated to two novel large-scale mitochondrial deletions." Biochemical and Biophysical Research Communications 411(2):381-386.

Azakli, H., Gurses, C., Arikan, M., Aydoseli, A., Aras, Y., Sencer, A., Gokyigit, A., Bilgic, B. and Ustek, D. (2013). "Whole mitochondrial DNA variations in hippocampal surgical specimens and blood samples with high-throughput sequencing: a case of mesial temporal lobe epilepsy with hippocampal sclerosis." Gene 529(1):190-194.

Bacalhau, M., Simoes, M., Rocha, M. C., Hardy, S. A., Vincent, A. E., Duraes, J., Macario, M. C., Santos, M. J., Rebelo, O., Lopes, C., Pratas, J., Mendes, C., Zuzarte, M., Rego, A. C., Girao, H., Wong, L. C., Taylor, R. W. and Grazina, M. (2018). "Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant." Neuromuscul Disord 28(4):350-360.

Bai, U. and Seidman, M. D. (2001). "A specific mitochondrial DNA deletion (mtDNA4977) is identified in a pedigree of a family with hearing loss." Hearing Research 154(1-2):73-80.

Bai, U., Seidman, M. D., Hinojosa, R. and Quirk, W. S. (1997). "Mitochondrial DNA deletions associated with aging and possibly presbycusis: a human archival temporal bone study." The American Journal of Otology 18(4):449-453.

Ballinger, S. W., Bouder, T. G., Davis, G. S., Judice, S. A., Nicklas, J. A. and Albertini, R. J. (1996). "Mitochondrial genome damage associated with cigarette smoking." Cancer Res 56(24):5692-5697.

Ballinger, S. W., Shoffner, J. M., Gebhart, S., Koontz, D. A. and Wallace, D. C. (1994). "Mitochondrial diabetes revisited." Nature Genetics 7(4):458-459.

Ballinger, S. W., Shoffner, J. M., Hedaya, E. V., Trounce, I., Polak, M. A., Koontz, D. A. and Wallace, D. C. (1992). "Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion." Nature Genetics 1(1):11-15.

Baranowska, I., Jaderlund, K. H., Nennesmo, I., Holmqvist, E., Heidrich, N., Larsson, N. G., Andersson, G., Wagner, E. G., Hedhammar, A., Wibom, R. and Andersson, L. (2009). "Sensory ataxic neuropathy in golden retriever dogs is caused by a deletion in the mitochondrial tRNATyr gene." PLoS Genet 5(5):e1000499.

Barreau, E., Brossas, J. Y., Courtois, Y. and Treton, J. A. (1996). "Accumulation of mitochondrial DNA deletions in human retina during aging." Investigative Ophthalmology and Visual Science 37(2):384-391.

Barritt, J. A., Brenner, C. A., Willadsen, S. and Cohen, J. (2000). "Spontaneous and artificial changes in human ooplasmic mitochondria." Human Reproduction 15 Suppl 2:207-217.

Baykara, O., Sahin, S. K., Akbas, F., Guven, M. and Onaran, I. (2016). "The effects of mitochondrial DNA deletion and copy number variations on different exercise intensities in highly trained swimmers." Cell Mol Biol (Noisy-le-grand) 62(12):109-115.

Belmonte, F. R., Martin, J. L., Frescura, K., Damas, J., Pereira, F., Tarnopolsky, M. A. and Kaufman, B. A. (2016). "Digital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions." Sci Rep 6:25186.

Bender, A., Krishnan, K. J., Morris, C. M., Taylor, G. A., Reeve, A. K., Perry, R. H., Jaros, E., Hersheson, J. S., Betts, J., Klopstock, T., Taylor, R. W. and Turnbull, D. M. (2006). "High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease." Nature Genetics 38(5):515-517.

Bene, J., Nadasi, E., Kosztolanyi, G., Mehes, K. and Melegh, B. (2003). "Congenital cataract as the first symptom of a neuromuscular disease caused by a novel single large-scale mitochondrial DNA deletion." European Journal of Human Genetics 11(5):375-379.

Bergamin, G., Boaretto, F., Briani, C., Pegoraro, E., Cacciavillani, M., Martinuzzi, A., Muglia, M., Vettori, A., Vazza, G. and Mostacciuolo, M. L. (2014). "Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease." Neuromolecular Med 16(3):540-550.

Berio, A., Piazzi, A. and Traverso, C. E. (2017). "Kearns-Sayre syndrome with facial and white matter extensive involvement: a (mitochondrial and nuclear gene related?) neurocristopathy?" Pediatr Med Chir 39(4):169.

Berneburg, M., Gattermann, N., Stege, H., Grewe, M., Vogelsang, K., Ruzicka, T. and Krutmann, J. (1997). "Chronically ultraviolet-exposed human skin shows a higher mutation frequency of mitochondrial DNA as compared to unexposed skin and the hematopoietic system." Photochemistry and Photobiology 66(2):271-275.

Berneburg, M., Gremmel, T., Kurten, V., Schroeder, P., Hertel, I., von Mikecz, A., Wild, S., Chen, M., Declercq, L., Matsui, M., Ruzicka, T. and Krutmann, J. (2005). "Creatine supplementation normalizes mutagenesis of mitochondrial DNA as well as functional consequences." J Invest Dermatol 125(2):213-220.

Berneburg, M., Grether-Beck, S., Kurten, V., Ruzicka, T., Briviba, K., Sies, H. and Krutmann, J. (1999). "Singlet oxygen mediates the UVA-induced generation of the photoaging-associated mitochondrial common deletion." J Biol Chem 274(22):15345-15349.

Berneburg, M., Plettenberg, H., Medve-Konig, K., Pfahlberg, A., Gers-Barlag, H., Gefeller, O. and Krutmann, J. (2004). "Induction of the photoaging-associated mitochondrial common deletion in vivo in normal human skin." Journal of Investigative Dermatology 122(5):1277-1283.

Bernes, S. M., Bacino, C., Prezant, T. R., Pearson, M. A., Wood, T. S., Fournier, P. and Fischel-Ghodsian, N. (1993). "Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome." Journal of Pediatrics 123(4):598-602.

Bet, L., Moggio, M., Comi, G. P., Mariani, C., Prelle, A., Checcarelli, N., Bordoni, A., Bresolin, N., Scarpini, E. and Scarlato, G. (1994). "Multiple sclerosis and mitochondrial myopathy: an unusual combination of diseases." Journal of Neurology 241(8):511-516.

Bianchi, M., Rizza, T., Verrigni, D., Martinelli, D., Tozzi, G., Torraco, A., Piemonte, F., Dionisi-Vici, C., Nobili, V., Francalanci, P., Boldrini, R., Callea, F., Santorelli, F. M., Bertini, E. and Carrozzo, R. (2011). "Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy." Biochemical and Biophysical Research Communications 415(2):300-304.

Birket, M. J. and Birch-Machin, M. A. (2007). "Ultraviolet radiation exposure accelerates the accumulation of the aging-dependent T414G mitochondrial DNA mutation in human skin." Aging Cell 6(4):557-564.

Biskup, S. and Moore, D. J. (2006). "Detrimental deletions: mitochondria, aging and Parkinson's disease." Bioessays 28(10):963-967.

Blackwood, J. K., Whittaker, R. G., Blakely, E. L., Alston, C. L., Turnbull, D. M. and Taylor, R. W. (2010). "The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells." Biochemical and Biophysical Research Communications 393(4):740-745.

Blanchard, B. J., Park, T., Fripp, W. J., Lerman, L. S. and Ingram, V. M. (1993). "A mitochondrial DNA deletion in normally aging and in Alzheimer brain tissue." Neuroreport 4(6):799-802.

Blok, R. B., Thorburn, D. R., Thompson, G. N. and Dahl, H. H. (1995). "A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion." Human Genetics 95(1):75-81.

Bodo, E., Tobin, D. J., Kamenisch, Y., Biro, T., Berneburg, M., Funk, W. and Paus, R. (2007). "Dissecting the impact of chemotherapy on the human hair follicle: a pragmatic in vitro assay for studying the pathogenesis and potential management of hair follicle dystrophy." Am J Pathol 171(4):1153-1167.

Bogliolo, M., Izzotti, A., De Flora, S., Carli, C., Abbondandolo, A. and Degan, P. (1999). "Detection of the '4977 bp' mitochondrial DNA deletion in human atherosclerotic lesions." Mutagenesis 14(1):77-82.

Bohm, M. and Hill, H. Z. (2016). "Ultraviolet B, melanin and mitochondrial DNA: Photo-damage in human epidermal keratinocytes and melanocytes modulated by alpha-melanocyte-stimulating hormone." F1000Res 5:881.

Bojarska-Junak, A., Semczuk, A., Grywalska, E., Rolinski, J. and Putowski, L. (2013). "mtDNA(4977) deletion is not a common feature in patients with premature ovarian failure and primary infertility." Clin Exp Obstet Gynecol 40(4):510-513.

Boles, R. G., Baldwin, E. E. and Prezant, T. R. (2007). "Combined cyclic vomiting and Kearns-Sayre syndromes." Pediatric Neurology 36(2):135-136.

Boles, R. G., Roe, T., Senadheera, D., Mahnovski, V. and Wong, L. J. (1998). "Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease." European Journal of Pediatrics 157(8):643-647.

Bosworth, C. M., Grandhi, S., Gould, M. P. and LaFramboise, T. (2017). "Detection and quantification of mitochondrial DNA deletions from next-generation sequence data." BMC Bioinformatics 18(Suppl 12):407.

Botto, N., Berti, S., Manfredi, S., Al-Jabri, A., Federici, C., Clerico, A., Ciofini, E., Biagini, A. and Andreassi, M. G. (2005). "Detection of mtDNA with 4977 bp deletion in blood cells and atherosclerotic lesions of patients with coronary artery disease." Mutat Res 570(1):81-88.

Bourgeron, T., Chretien, D., Rotig, A., Munnich, A. and Rustin, P. (1993). "Fate and expression of the deleted mitochondrial DNA differ between human heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures." The Journal of Biological Chemistry 268(26):19369-19376.

Brass, E. P., Wang, H. and Hiatt, W. R. (2000). "Multiple skeletal muscle mitochondrial DNA deletions in patients with unilateral peripheral arterial disease." Vasc Med 5(4):225-230.

Breen, M. S. and Kondrashov, F. A. (2010). "Mitochondrial pathogenic mutations are population-specific." Biol Direct 5:68.

Brenner, C. A., Wolny, Y. M., Barritt, J. A., Matt, D. W., Munne, S. and Cohen, J. (1998). "Mitochondrial DNA deletion in human oocytes and embryos." Molecular Human Reproduction 4(9):887-892.

Brockington, M., Sweeney, M. G., Hammans, S. R., Morgan-Hughes, J. A. and Harding, A. E. (1993). "A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies." Nature Genetics 4(1):67-71.

Bruno, C., Minetti, C., Tang, Y., Magalhaes, P. J., Santorelli, F. M., Shanske, S., Bado, M., Cordone, G., Gatti, R. and DiMauro, S. (1998). "Primary adrenal insufficiency in a child with a mitochondrial DNA deletion." J Inherit Metab Dis 21(2):155-161.

Byrne, E. (1992). "New concepts in respiratory chain diseases." Curr Opin Rheumatol 4(6):784-793.

Caballero, P. E., Candela, M. S., Alvarez, C. I. and Tejerina, A. A. (2007). "Chronic progressive external ophthalmoplegia: a report of 6 cases and a review of the literature." Neurologist 13(1):33-36.

Cameron, J. M., Levandovskiy, V., MacKay, N., Utgikar, R., Ackerley, C., Chiasson, D., Halliday, W., Raiman, J. and Robinson, B. H. (2009). "Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts." Mol Genet Metab 98(4):378-382.

Cammarata-Scalisi, F., Lopez-Gallardo, E., Emperador, S., Ruiz-Pesini, E., Da Silva, G., Camacho, N. and Montoya, J. (2011). "[Pearson syndrome. Case report]." Invest Clin 52(3):261-267.

Campos, Y., Martin, M. A., Caballero, C., Rubio, J. C., de la Cruz, F., Tunon, T. and Arenas, J. (2000). "Single large-scale mitochondrial DNA deletion in a patient with encephalopathy, cardiomyopathy, and prominent intestinal pseudo-obstruction." Neuromuscul Disord 10(1):56-58.

Carelli, V. and La Morgia, C. (2018). "Clinical syndromes associated with mtDNA mutations: where we stand after 30 years." Essays Biochem 62(3):235-254.

Chabi, B., Mousson de Camaret, B., Duborjal, H., Issartel, J. P. and Stepien, G. (2003). "Quantification of mitochondrial DNA deletion, depletion, and overreplication: application to diagnosis." Clinical Chemistry 49(8):1309-1317.

Chan, C. C., Liu, V. W., Lau, E. Y., Yeung, W. S., Ng, E. H. and Ho, P. C. (2005). "Mitochondrial DNA content and 4977 bp deletion in unfertilized oocytes." Molecular Human Reproduction 11(12):843-846.

Chang, M. C., Hung, S. C., Chen, W. Y., Chen, T. L., Lee, C. F., Lee, H. C., Wang, K. L., Chiou, C. C. and Wei, Y. H. (2005). "Accumulation of mitochondrial DNA with 4977-bp deletion in knee cartilage--an association with idiopathic osteoarthritis." Osteoarthritis Cartilage 13(11):1004-1011.

Chen, D. and Zhan, H. (2009). "Study on the mutations in the D-loop region of mitochondrial DNA in cervical carcinoma." J Cancer Res Clin Oncol 135(2):291-295.

Chen, L. Y., Wang, Y., Terkeltaub, R. and Liu-Bryan, R. (2018). "Activation of AMPK-SIRT3 signaling is chondroprotective by preserving mitochondrial DNA integrity and function." Osteoarthritis Cartilage 26(11):1539-1550.

Chen, Q., Li, X., Wu, L., Qi, Y. and Wu, X. (1998). "Mitochondrial gene defect in patients with chronic progressive external ophthalmoplegia." Chin Med J (Engl) 111(6):500-503.

Chen, T., He, J., Huang, Y. and Zhao, W. (2011). "The generation of mitochondrial DNA large-scale deletions in human cells." J Hum Genet 56(10):689-694.

Chen, T., He, J., Shen, L., Fang, H., Nie, H., Jin, T., Wei, X., Xin, Y., Jiang, Y., Li, H., Chen, G., Lu, J. and Bai, Y. (2011). "The mitochondrial DNA 4,977-bp deletion and its implication in copy number alteration in colorectal cancer." BMC Med Genet 12:8.

Chen, X., Bonilla, E., Sciacco, M. and Schon, E. A. (1995). "Paucity of deleted mitochondrial DNAs in brain regions of Huntington's disease patients." Biochimica et Biophysica Acta 1271(1):229-233.

Chen, X., Prosser, R., Simonetti, S., Sadlock, J., Jagiello, G. and Schon, E. A. (1995). "Rearranged mitochondrial genomes are present in human oocytes." American Journal of Human Genetics 57(2):239-247.

Cheng, Y., Ren, X., Gowda, A. S., Shan, Y., Zhang, L., Yuan, Y. S., Patel, R., Wu, H., Huber-Keener, K., Yang, J. W., Liu, D., Spratt, T. E. and Yang, J. M. (2013). "Interaction of Sirt3 with OGG1 contributes to repair of mitochondrial DNA and protects from apoptotic cell death under oxidative stress." Cell Death Dis 4:e731.

Chinault, A. C., Shaw, C. A., Brundage, E. K., Tang, L. Y. and Wong, L. J. (2009). "Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes." Genetics in Medicine 11(7):518-526.

Conti, L., Vatrano, S., Bertero, L., Masu, L., Pacchioni, D., Daniele, L., De Rosa, G., Cassoni, P., Volante, M. and Papotti, M. (2017). "Mitochondrial DNA "common deletion" in post-fine needle aspiration infarcted oncocytic thyroid tumors." Hum Pathol 69:23-30.

Cooper, J. M., Mann, V. M. and Schapira, A. H. (1992). "Analyses of mitochondrial respiratory chain function and mitochondrial DNA deletion in human skeletal muscle: effect of ageing." J Neurol Sci 113(1):91-98.

Cormier-Daire, V., Bonnefont, J. P., Rustin, P., Maurage, C., Ogler, H., Schmitz, J., Ricour, C., Saudubray, J. M., Munnich, A. and Rotig, A. (1994). "Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy." Journal of Pediatrics 124(1):63-70.

Cormier, V., Rotig, A., Quartino, A. R., Forni, G. L., Cerone, R., Maier, M., Saudubray, J. M. and Munnich, A. (1990). "Widespread multitissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome." Journal of Pediatrics 117(4):599-602.

Corral-Debrinski, M., Horton, T., Lott, M. T., Shoffner, J. M., Beal, M. F. and Wallace, D. C. (1992). "Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age." Nature Genetics 2(4):324-329.

Corral-Debrinski, M., Horton, T., Lott, M. T., Shoffner, J. M., McKee, A. C., Beal, M. F., Graham, B. H. and Wallace, D. C. (1994). "Marked changes in mitochondrial DNA deletion levels in Alzheimer brains." Genomics 23(2):471-476.

Corral-Debrinski, M., Shoffner, J. M., Lott, M. T. and Wallace, D. C. (1992). "Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease." Mutation Research 275(3-6):169-180.

Corral-Debrinski, M., Stepien, G., Shoffner, J. M., Lott, M. T., Kanter, K. and Wallace, D. C. (1991). "Hypoxemia is associated with mitochondrial DNA damage and gene induction. Implications for cardiac disease." JAMA 266(13):1812-1816.

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Crimi, M., Bordoni, A., Menozzi, G., Riva, L., Fortunato, F., Galbiati, S., Del Bo, R., Pozzoli, U., Bresolin, N. and Comi, G. P. (2005). "Skeletal muscle gene expression profiling in mitochondrial disorders." FASEB J 19(7):866-868.

Crimi, M., Del Bo, R., Galbiati, S., Sciacco, M., Bordoni, A., Bresolin, N. and Comi, G. P. (2003). "Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion." Eur J Hum Genet 11(11):896-898.

Cruz, S., Taipa, R., Nogueira, C., Pereira, C., Almeida, L. S., Neiva, R., Geraldes, T., Guimaraes, A., Melo-Pires, M. and Vilarinho, L. (2017). "Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders." Muscle Nerve 56(5):868-872.

Cummins, J. M., Jequier, A. M., Martin, R., Mehmet, D. and Goldblatt, J. (1998). "Semen levels of mitochondrial DNA deletions in men attending an infertility clinic do not correlate with phenotype." Int J Androl 21(1):47-52.

Czarny, P., Seda, A., Wielgorski, M., Binczyk, E., Markiewicz, B., Kasprzak, E., Jimenez-Garcia, M. P., Grabska-Liberek, I., Pawlowska, E., Blasiak, J., Szaflik, J. and Szaflik, J. P. (2014). "Mutagenesis of mitochondrial DNA in Fuchs endothelial corneal dystrophy." Mutat Res 760:42-47.

Dai, J. G., Xiao, Y. B., Min, J. X., Zhang, G. Q., Yao, K. and Zhou, R. J. (2006). "Mitochondrial DNA 4977 BP deletion mutations in lung carcinoma." Indian J Cancer 43(1):20-25.

Dai, P., Jiang, S. and Gu, R. (2000). "[Cochlear hypoxia and mtDNA deletion: possible correlated factors to cause presbycusis]." Zhonghua Yi Xue Za Zhi 80(12):897-900.

Dai, P., Yang, W., Jiang, S., Gu, R., Yuan, H., Han, D., Guo, W. and Cao, J. (2004). "Correlation of cochlear blood supply with mitochondrial DNA common deletion in presbyacusis." Acta Otolaryngol 124(2):130-136.

Damas, J., Samuels, D. C., Carneiro, J., Amorim, A. and Pereira, F. (2014). "Mitochondrial DNA rearrangements in health and disease--a comprehensive study." Hum Mutat 35(1):1-14.

Dani, S. U., Dani, M. A. and Simpson, A. J. (2003). "The common mitochondrial DNA deletion deltamtDNA(4977): shedding new light to the concept of a tumor suppressor mutation." Med Hypotheses 61(1):60-63.

Datta, S., Chattopadhyay, E., Ray, J. G., Majumder, M., Roy, P. D. and Roy, B. (2015). "D-loop somatic mutations and approximately 5 kb "common" deletion in mitochondrial DNA: important molecular markers to distinguish oral precancer and cancer." Tumour Biol 36(4):3025-3033.

De Flora, S., Scarfi, S., Izzotti, A., D'Agostini, F., Chang, C. C., Bagnasco, M., De Flora, A. and Trosko, J. E. (2006). "Induction by 7,12-dimethylbenz(a)anthracene of molecular and biochemical alterations in transformed human mammary epithelial stem cells, and protection by N-acetylcysteine." Int J Oncol 29(3):521-529.

De Vries, D. D., Buzing, C. J. M., Ruitenbeek, W., van de Wouw, M. P. M. E., Sperl, W., Sengers, R. C. A., Trijbels, J. M. F. and van Oost, B. A. (1992). "Myopathology and a mitochondrial DNA deletion in the Pearson marrow and pancreas syndrome." Neuromuscular Disorders 2(3):185-195.

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Topic revision: r3 - 08 Nov 2019, MarieLott

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