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Artículos de revistas sobre el tema "Mitochondrial DNA depletion syndrome"

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Publicado: 4 de junio de 2021
Última modificación: 9 de marzo de 2023

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1

Millichap, J. Gordon. "Mitochondrial DNA Depletion Syndrome." Pediatric Neurology Briefs 16, no. 11 (November 1, 2002): 82. http://dx.doi.org/10.15844/pedneurbriefs-16-11-3.

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2

Millichap, J. Gordon. "Myopathic Mitochondrial DNA Depletion Syndrome." Pediatric Neurology Briefs 17, no. 8 (August 1, 2003): 62. http://dx.doi.org/10.15844/pedneurbriefs-17-8-7.

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3

Tesarova, M., J. A. Mayr, L. Wenchich, H. Hansikova, M. Elleder, K. Blahova, W. Sperl, and J. Zeman. "Mitochondrial DNA Depletion in Alpers Syndrome." Neuropediatrics 35, no. 4 (July 2004): 217–23. http://dx.doi.org/10.1055/s-2004-821081.

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4

Rahman, S., Taanman J-W, BN Harding, and Morris Aam. "Alpers Syndrome with Mitochondrial Dna Depletion." Clinical Science 103, s47 (July 1, 2002): 51P. http://dx.doi.org/10.1042/cs103051p.

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5

Filiano, James J., Michael J. Goldenthal, Alexander C. Mamourian, Cara C. Hall, and José Marı́n-Garcı́a. "Mitochondrial DNA depletion in Leigh syndrome." Pediatric Neurology 26, no. 3 (March 2002): 239–42. http://dx.doi.org/10.1016/s0887-8994(01)00377-0.

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6

Rahman, S., J. W. Taanman, and B. N. Harding. "Alpers syndrome with mitochondrial DNA depletion." Neuropathology and Applied Neurobiology 28, no. 2 (March 2002): 160. http://dx.doi.org/10.1046/j.1365-2990.2002.39286_32.x.

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7

Basel, Donald. "Mitochondrial DNA Depletion Syndromes." Clinics in Perinatology 47, no. 1 (March 2020): 123–41. http://dx.doi.org/10.1016/j.clp.2019.10.008.

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8

Wang, Liya, and Staffan Eriksson. "Mitochondrial deoxyguanosine kinase mutations and mitochondrial DNA depletion syndrome." FEBS Letters 554, no. 3 (October 21, 2003): 319–22. http://dx.doi.org/10.1016/s0014-5793(03)01181-5.

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9

Hong, Ki Teak, Byung Chan Lim, Jin Soo Moon, and Jae Sung Ko. "MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome." Korean Journal of Gastroenterology 77, no. 5 (May 25, 2021): 248–52. http://dx.doi.org/10.4166/kjg.2020.170.

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10

Taanman, J. W., A. G. Bodnar, J. M. Cooper, A. A. M. Morris, P. T. Clayton, J. V. Leonard, and A. H. V. Schapira. "Molecular Mechanisms in Mitochondrial DNA Depletion Syndrome." Human Molecular Genetics 6, no. 6 (June 1, 1997): 935–42. http://dx.doi.org/10.1093/hmg/6.6.935.

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11

Vu, T. "Navajo neurohepatopathy: A mitochondrial DNA depletion syndrome?" Hepatology 34, no. 1 (July 2001): 116–20. http://dx.doi.org/10.1053/jhep.2001.25921.

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12

Saito, Keiko, Nobusuke Kimura, Nozomi Oda, Hideki Shimomura, Tomohiro Kumada, Tomoko Miyajima, Kei Murayama, Masashi Tanaka, and Tatsuya Fujii. "Pyruvate therapy for mitochondrial DNA depletion syndrome." Biochimica et Biophysica Acta (BBA) - General Subjects 1820, no. 5 (May 2012): 632–36. http://dx.doi.org/10.1016/j.bbagen.2011.08.006.

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13

Bijarnia-Mahay, Sunita, Neelam Mohan, Deepak Goyal, I. C. Verma, K. E. Elizabeth, and K. Jubin. "Mitochondrial DNA depletion syndrome causing liver failure." Indian Pediatrics 51, no. 8 (August 2014): 666–68. http://dx.doi.org/10.1007/s13312-014-0475-z.

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14

Dimmock, David, Lin-Ya Tang, Eric S. Schmitt, and Lee-Jun C. Wong. "Quantitative Evaluation of the Mitochondrial DNA Depletion Syndrome." Clinical Chemistry 56, no. 7 (July 1, 2010): 1119–27. http://dx.doi.org/10.1373/clinchem.2009.141549.

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Abstract Background: The mitochondrial DNA (mtDNA) depletion syndromes (MDDSs) are autosomal recessive disorders characterized by a reduction in cellular mtDNA content. Mutations in at least 9 genes [POLG, polymerase (DNA directed), gamma; DGUOK, deoxyguanosine kinase; TK2, thymidine kinase, mitochondrial; TYMP, thymidine phosphorylase; MPV17, MpV17 mitochondrial inner membrane protein; SUCLA2, succinate-CoA ligase, ADP-forming, beta subunit; SUCLG1, succinate-CoA ligase, alpha subunit; RRM2B, RRM2B, ribonucleotide reductase M2 B (TP53 inducible); and C10orf2, chromosome 10 open reading frame
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15

Hazard, Florette K., Can H. Ficicioglu, Jaya Ganesh, and Eduardo D. Ruchelli. "Liver Pathology in Infantile Mitochondrial DNA Depletion Syndrome." Pediatric and Developmental Pathology 16, no. 6 (November 2013): 415–24. http://dx.doi.org/10.2350/12-07-1229-oa.1.

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16

Finsterer, Josef, Gabor G. Kovacs, and Uwe Ahting. "Adult mitochondrial DNA depletion syndrome with mild manifestations." Neurology International 5, no. 2 (June 25, 2013): 9. http://dx.doi.org/10.4081/ni.2013.e9.

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Mitochondrial DNA depletion syndrome (MDS) is usually a severe disorder of infancy or childhood, due to a reduced copy number of mtDNA molecules. MDS with only mild, non-specific clinical manifestations and onset in adulthood has not been reported. A 47-year-old Caucasian female with short stature and a history of migraine, endometriosis, Crohn’s disease, C-cell carcinoma of the thyroid gland, and a family history positive for mitochondrial disorder (2 sisters, aunt, niece), developed day-time sleepiness, exercise intolerance, and myalgias in the lower-limb muscles since age 46y. She slept 9-1
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17

Ipatova, M. G., Y. S. Itkis, I. O. Bychkov, A. N. Grishina, E. L. Tumanova, and E. Yu Zakharova. "MITOCHONDRIAL DNA DEPLETION SYNDROME IN A NEWBORN CHILD." Pediatria. Journal named after G.N. Speransky 97, no. 1 (February 12, 2018): 71–77. http://dx.doi.org/10.24110/0031-403x-2018-97-1-71-77.

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18

Nardi, Nicolas, François Proulx, Catherine Brunel-Guiton, Luc L. Oligny, Nelson Piché, Grant A. Mitchell, and Jean Sébastien Joyal. "Fulminant Necrotizing Enterocolitis and Multiple Organ Dysfunction in a Toddler with Mitochondrial DNA Depletion Syndrome-13." Journal of Pediatric Intensive Care 09, no. 01 (October 10, 2019): 054–59. http://dx.doi.org/10.1055/s-0039-1697620.

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AbstractNecrotizing enterocolitis (NEC) is exceptional after the neonatal period. A toddler with encephalopathy, mitochondrial myopathy, and hypertrophic cardiomyopathy developed fatal NEC and multiple organ dysfunction within 48 hours of the introduction of enteral feeding. She was subsequently found to have pathogenic mutations in FBXL4, a cause of mitochondrial DNA depletion syndrome-13. Intestinal dysmotility in the context of deficient mitochondrial respiration may have contributed to the development of NEC. Current paradigms call for early introduction of enteral nutrition to reinstate e
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19

Nogueira, Célia, Ligia S. Almeida, Claudia Nesti, Ilaria Pezzini, Arnaldo Videira, Laura Vilarinho, and Filippo M. Santorelli. "Syndromes associated with mitochondrial DNA depletion." Italian Journal of Pediatrics 40, no. 1 (2014): 34. http://dx.doi.org/10.1186/1824-7288-40-34.

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20

Deodato, Federica, Simona Lucioli, Cristiano Rizzo, Maria Chiara Meschini, Filippo M. Santorelli, Enrico Bertini, Carlo Dionisi-Vici, and Rosalba Carrozzo. "Mitochondrial DNA depletion syndromes: an update." Paediatrics and Child Health 19 (October 2009): S32—S37. http://dx.doi.org/10.1016/j.paed.2009.05.031.

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21

Rahman, S., and J. Poulton. "Diagnosis of mitochondrial DNA depletion syndromes." Archives of Disease in Childhood 94, no. 1 (January 1, 2009): 3–5. http://dx.doi.org/10.1136/adc.2008.147983.

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22

Dimmick, James. "Conjugated Hyperbilirubinemia in Infancy (Mitochondrial DNA Depletion Syndrome, Liver)." Pediatric and Developmental Pathology 7, no. 6 (November 2004): 625–28. http://dx.doi.org/10.1007/s10024-004-5052-3.

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23

Almannai, Mohammed, Ayman W. El-Hattab, and Fernando Scaglia. "Mitochondrial DNA replication: clinical syndromes." Essays in Biochemistry 62, no. 3 (June 27, 2018): 297–308. http://dx.doi.org/10.1042/ebc20170101.

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Each nucleated cell contains several hundreds of mitochondria, which are unique organelles in being under dual genome control. The mitochondria contain their own DNA, the mtDNA, but most of mitochondrial proteins are encoded by nuclear genes, including all the proteins required for replication, transcription, and repair of mtDNA. MtDNA replication is a continuous process that requires coordinated action of several enzymes that are part of the mtDNA replisome. It also requires constant supply of deoxyribonucleotide triphosphates(dNTPs) and interaction with other mitochondria for mixing and unif
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24

Fumagalli, Monica, Dario Ronchi, Maria Francesca Bedeschi, Arianna Manini, Gloria Cristofori, Fabio Mosca, Robertino Dilena, et al. "A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome." Molecular Genetics and Metabolism Reports 32 (September 2022): 100887. http://dx.doi.org/10.1016/j.ymgmr.2022.100887.

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25

Kim, Joonil, Eungu Kang, Yoonmyung Kim, Jae-Min Kim, Beom Hee Lee, Kei Murayama, Gu-Hwan Kim, In Hee Choi, Kyung Mo Kim, and Han-Wook Yoo. "MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome." Molecular Genetics and Metabolism Reports 8 (September 2016): 74–76. http://dx.doi.org/10.1016/j.ymgmr.2016.06.006.

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26

Absalon, Michael J., Cary O. Harding, Daniel R. Fain, Lei Li, and Kenneth J. Mack. "Leigh syndrome in an infant resulting from mitochondrial DNA depletion." Pediatric Neurology 24, no. 1 (January 2001): 60–63. http://dx.doi.org/10.1016/s0887-8994(00)00226-5.

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27

Qualls, Clifford, Mario Kornfeld, Nancy Joste, Abdul-Mehdi Ali, and Otto Appenzeller. "MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (MPV17-NNH) revisited." eNeurologicalSci 2 (March 2016): 8–13. http://dx.doi.org/10.1016/j.ensci.2016.01.004.

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28

Naviaux, Robert K., and Khue V. Nguyen. "POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion." Annals of Neurology 55, no. 5 (2004): 706–12. http://dx.doi.org/10.1002/ana.20079.

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29

Naviaux, Robert K., and Khue V. Nguyen. "POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion." Annals of Neurology 58, no. 3 (2005): 491. http://dx.doi.org/10.1002/ana.20544.

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30

Poulton, J., M. Hirano, A. Spinazzola, M. Arenas Hernandez, C. Jardel, A. Lombès, B. Czermin, et al. "Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1)." Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1792, no. 12 (December 2009): 1109–12. http://dx.doi.org/10.1016/j.bbadis.2009.08.016.

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31

Mandel, H. "The hepatic mitochondrial DNA depletion syndrome: Ultrastructural changes in liver biopsies." Hepatology 34, no. 4 (October 2001): 776–84. http://dx.doi.org/10.1053/jhep.2001.27664.

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32

Bornstein, Belén, Estela Area, Kevin M. Flanigan, Jaya Ganesh, Parul Jayakar, Kathryn J. Swoboda, Jorida Coku, et al. "Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene." Neuromuscular Disorders 18, no. 6 (June 2008): 453–59. http://dx.doi.org/10.1016/j.nmd.2008.04.006.

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33

Blake, Julian C., Jan-Willem Taanman, Andrew M. M. Morris, R. George F. Gray, J. Mark Cooper, Patrick J. McKiernan, James V. Leonard, and Anthony H. V. Schapira. "Mitochondrial DNA Depletion Syndrome is Expressed in Amniotic Fluid Cell Cultures." American Journal of Pathology 155, no. 1 (July 1999): 67–70. http://dx.doi.org/10.1016/s0002-9440(10)65100-0.

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34

Freisinger, Peter, Nancy Fütterer, Erwin Lankes, Klaus Gempel, Thomas M. Berger, Johannes Spalinger, Alexandra Hoerbe, et al. "Hepatocerebral Mitochondrial DNA Depletion Syndrome Caused by Deoxyguanosine Kinase (DGUOK) Mutations." Archives of Neurology 63, no. 8 (August 1, 2006): 1129. http://dx.doi.org/10.1001/archneur.63.8.1129.

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35

Elpeleg, Orly, Hanna Mandel, and Ann Saada. "Depletion of the other genome-mitochondrial DNA depletion syndromes in humans." Journal of Molecular Medicine 80, no. 7 (May 24, 2002): 389–96. http://dx.doi.org/10.1007/s00109-002-0343-5.

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36

Naviaux, Robert K., David Markusic, Bruce A. Barshop, William L. Nyhan та Richard H. Haas. "Sensitive Assay for Mitochondrial DNA Polymerase γ". Clinical Chemistry 45, № 10 (1 жовтня 1999): 1725–33. http://dx.doi.org/10.1093/clinchem/45.10.1725.

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Abstract Background: The mitochondrial DNA polymerase γ is the principal polymerase required for mitochondrial DNA replication. Primary or secondary deficiencies in the activity of DNA polymerase γ may lead to mitochondrial DNA depletion. We describe a sensitive and robust clinical assay for this enzyme. Methods: The assay was performed on mitochondria isolated from skeletal muscle biopsies. High-molecular weight polynucleotide reaction products were captured on ion-exchange paper, examined qualitatively by autoradiography, and quantified by scintillation counting. Results: Kinetic analysis of
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37

Suomalainen, Anu, and Pirjo Isohanni. "Mitochondrial DNA depletion syndromes – Many genes, common mechanisms." Neuromuscular Disorders 20, no. 7 (July 2010): 429–37. http://dx.doi.org/10.1016/j.nmd.2010.03.017.

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38

Montero, Raquel, Manuela Grazina, Ester López-Gallardo, Julio Montoya, Paz Briones, Aleix Navarro-Sastre, John M. Land, et al. "Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes." Mitochondrion 13, no. 4 (July 2013): 337–41. http://dx.doi.org/10.1016/j.mito.2013.04.001.

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39

Yamazaki, Taro, Kei Murayama, Alison G. Compton, Canny Sugiana, Hiroko Harashima, Shin Amemiya, Masami Ajima, et al. "Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: Focusing on mitochondrial DNA depletion syndrome." Pediatrics International 56, no. 2 (March 6, 2014): 180–87. http://dx.doi.org/10.1111/ped.12249.

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40

Selim, Laila, Dina Mehaney, Fayza Hassan, Randa Sabry, Reham Zeyada, Sawsan Hassan, Iman Gamal Eldin, and Enrico Bertini. "Mitochondrial DNA depletion syndrome presenting with ataxia and external ophthalmoplegia: Case report." Egyptian Journal of Medical Human Genetics 13, no. 3 (October 2012): 351–57. http://dx.doi.org/10.1016/j.ejmhg.2012.05.003.

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41

Weng, Shao-Wen, Daniel R. Boué, Brenda L. Wong, Lin-Ya Tang, Jerry R. Mendell, Deborah A. Perry, Zarife Sahenk, Gregory M. Enns, and Lee-Jun C. Wong. "46. Molecular Characterization of The Myopathic Form of Mitochondrial DNA Depletion Syndrome." Mitochondrion 9, no. 1 (February 2009): 72. http://dx.doi.org/10.1016/j.mito.2008.12.040.

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42

Brahimi, N., M. Jambou, E. Sarzi, V. Serre, N. Boddaert, S. Romano, P. de Lonlay, A. Slama, A. Munnich, and A. Rötig. "The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome." Molecular Genetics and Metabolism 97, no. 3 (July 2009): 221–26. http://dx.doi.org/10.1016/j.ymgme.2009.03.007.

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43

El-Hattab, Ayman W., Fang-Yuan Li, Eric Schmitt, Shulin Zhang, William J. Craigen, and Lee-Jun C. Wong. "MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations." Molecular Genetics and Metabolism 99, no. 3 (March 2010): 300–308. http://dx.doi.org/10.1016/j.ymgme.2009.10.003.

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44

Lam, Ching-wan, Wai-Lan Yeung, Tsz-ki Ling, Ka-chung Wong, and Chun-yiu Law. "Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome." Clinica Chimica Acta 496 (September 2019): 93–99. http://dx.doi.org/10.1016/j.cca.2019.06.028.

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45

Tadiboyina, Venu T., Anthony Rupar, Paul Atkison, Annette Feigenbaum, Jonathan Kronick, Jian Wang, and Robert A. Hegele. "Novel mutation inDGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria." American Journal of Medical Genetics Part A 135A, no. 3 (2005): 289–91. http://dx.doi.org/10.1002/ajmg.a.30748.

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46

Castro Macías, J. I., I. Quijas Aldana, G. Santos Vázquez, and M. O. Díaz Campos. "Mitochondrial DNA depletion syndromes. Case report and literature review." Journal of the Neurological Sciences 381 (October 2017): 696. http://dx.doi.org/10.1016/j.jns.2017.08.1960.

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47

Spinazzola, A., F. Invernizzi, F. Carrara, E. Lamantea, A. Donati, M. DiRocco, I. Giordano, et al. "Clinical and molecular features of mitochondrial DNA depletion syndromes." Journal of Inherited Metabolic Disease 32, no. 2 (December 27, 2008): 143–58. http://dx.doi.org/10.1007/s10545-008-1038-z.

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48

Neagu, Alexandra-Cristina, Magdalena Budișteanu, Dan-Cristian Gheorghe, Adela-Ioana Mocanu, and Horia Mocanu. "Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature." Medicina 58, no. 9 (September 9, 2022): 1252. http://dx.doi.org/10.3390/medicina58091252.

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(1) Background: In this paper, we report on three cases of hypoacusis as part of a complex phenotype and some rare gene variants. An extensive review of literature completes the newly reported clinical and genetic information. (2) Methods: The cases range from 2- to 11-year-old boys, all with a complex clinical picture and hearing impairment. In all cases, whole exome sequencing (WES) was performed, in the first case in association with mitochondrial DNA study. (3) Results: The detected variants were: two heterozygous variants in the TWNK gene, one likely pathogenic and another of uncertain cl
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49

AlSaman, Abdulaziz, Hoda Tomoum, Federica Invernizzi, and Massimo Zeviani. "Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene." Saudi Journal of Gastroenterology 18, no. 4 (2012): 285. http://dx.doi.org/10.4103/1319-3767.98439.

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50

Keshavan, Nandaki, Jose Abdenur, Glenn Anderson, Zahra Assouline, Giulia Barcia, Lamia Bouhikbar, Anupam Chakrapani, et al. "The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency." Genetics in Medicine 22, no. 1 (August 29, 2019): 199–209. http://dx.doi.org/10.1038/s41436-019-0613-z.

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