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Sulaiman et al. J Transl Genet Genom 2020;4:159-87  I  https://doi.org/10.20517/jtgg.2020.27                                         Page 181

                   a tRNA point mutation and mitochondrial encephalomyopathy. Hum Mol Genet 1997;6:2239-42.
               38.  Pineda M, Ormazabal A, López-Gallardo E, Nascimento A, Solano A, et al. Cerebral folate deficiency and leukoencephalopathy caused
                   by a mitochondrial DNA deletion. Ann Neurol 2006;59:394-8.
               39.  Patel R, Coulter LL, Rimmer J, Parkes M, Chinnery PF, et al. Mitochondrial neurogastrointestinal encephalopathy: a clinicopathological
                   mimic of Crohn’s disease. BMC Gastroenterol 2019;19:11.
               40.  Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science
                   1999;283:689-92.
               41.  González-Vioque E, Torres-Torronteras J, Andreu AL, Martí R. Limited dCTP availability accounts for mitochondrial DNA depletion in
                   mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). PLoS genet 2011;7:e1002035.
               42.  Shaibani A, Shchelochkov OA, Zhang S, Katsonis P, Lichtarge O, et al. Mitochondrial neurogastrointestinal encephalopathy due to
                   mutations in RRM2B. Arch Neurol 2009;66:1028-32.
               43.  Tang S, Dimberg EL, Milone M, Wong LJC. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an
                   expanded clinical spectrum of POLG1 mutations. J Neurol 2012;259:862-8.
               44.  Saneto RP, Cohen BH, Copeland WC, Naviaux RK. Alpers-Huttenlocher syndrome. Pediatr Neurol 2013;48:167-78.
               45.  El-Hattab AW, Scaglia F. Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic
                   options. Neurotherapeutics 2013;10:186-98.
               46.  Suomalainen A, Isohanni P. Mitochondrial DNA depletion syndromes--many genes, common mechanisms. Neuromuscul Disord
                   2010;20:429-37.
               47.  Rahman S, Copeland WC. POLG-related disorders and their neurological manifestations. Nat Rev Neurol 2019;15:40-52.
               48.  de Vries DD, van Engelen BGM, Gabreëls FJM, Ruitenbeek W, van Oost BA. A second missense mutation in the mitochondrial ATPase 6
                   gene in Leigh’s syndrome. Ann Neurol 1993;34:410-2.
               49.  Harding AE, Holt IJ, Sweeney MG, Brockington M, Davis MB. Prenatal diagnosis of mitochondrial DNA8993 T----G disease. Am J Hum
                   Genet 1992;50:629-33.
               50.  Holt IJ, Harding AE, Petty RK, Morgan-Hughes JA. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am
                   J Hum Genet 1990;46:428-33.
               51.  Carrozzo R, Murray J, Santorelli FM, Capaldi RA. The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP
                   synthase when modeled in Escherichia coli. FEBS Letters 2000;486:297-9.
               52.  Verny C, Guegen N, Desquiret V, Chevrollier A, Prundean A, et al. Hereditary spastic paraplegia-like disorder due to a mitochondrial
                   ATP6 gene point mutation. Mitochondrion 2011;11:70-5.
               53.  Thyagarajan D, Shanske S, Vazquez -Memije M, Devivo D, Dimauro S. A novel mitochondrial ATPase 6 point mutation in familial
                   bilateral striatal necrosis. Ann Neurol 1995;38:468-72.
               54.  Moslemi AR, Darin N, Tulinius M, Oldfors A, Holme E. Two new mutations in the MTATP6 gene associated with Leigh syndrome.
                   Neuropediatrics 2005;36:314-8.
               55.  Tiranti V, Corona P, Greco M, Taanman JW, Carrara F, et al. A novel frameshift mutation of the mtDNA COIII gene leads to impaired
                   assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome. Hum Mol Genet 2000;9:2733-42.
               56.  Crimi M, Papadimitriou A, Galbiati S, Palamidou P, Fortunato F, et al. A new mitochondrial DNA mutation in ND3 gene causing severe
                   Leigh syndrome with early lethality. Pediatr Res 2004;55:842-6.
               57.  McFarland R, Kirby DM, Fowler KJ, Ohtake A, Ryan MT, et al. De novo mutations in the mitochondrial ND3 gene as a cause of infantile
                   mitochondrial encephalopathy and complex I deficiency. Ann Neurol 2004;55:58-64.
               58.  Taylor RW, Singh-Kler R, Hayes CM, Smith PE, Turnbull DM. Progressive mitochondrial disease resulting from a novel missense
                   mutation in the mitochondrial DNA ND3 gene. Ann Neurol 2001;50:104-7.
               59.  Sarzi E, Brown MD, Lebon S, Chretien D, Munnich A, et al. A novel recurrent mitochondrial DNA mutation in ND3 gene is associated
                   with isolated complex I deficiency causing Leigh syndrome and dystonia. Am J Med Genet A 2007;143a:33-41.
               60.  Kirby DM, McFarland R, Ohtake A, Dunning C, Ryan MT, et al. Mutations of the mitochondrial ND1 gene as a cause of MELAS. J Med
                   Genet 2004;41:784-9.
               61.  Deschauer M, Bamberg C, Claus D, Zierz S, Turnbull DM, et al. Late-onset encephalopathy associated with a C11777A mutation of
                   mitochondrial DNA. Neurology 2003;60:1357-9.
               62.  Komaki H, Akanuma J, Iwata H, Takahashi T, Mashima Y, et al. A novel mtDNA C11777A mutation in Leigh syndrome. Mitochondrion
                   2003;2:293-304.
               63.  Taylor RW, Morris AA, Hutchinson M, Turnbull DM. Leigh disease associated with a novel mitochondrial DNA ND5 mutation. Eur J
                   Hum Genet 2002;10:141-4.
               64.  Simon DK, Friedman J, Breakefield XO, Jankovic J, Brin MF, et al. A heteroplasmic mitochondrial complex I gene mutation in adult-
                   onset dystonia. Neurogenetics 2003;4:199-205.
               65.  Kirby DM, Kahler SG, Freckmann ML, Reddihough D, Thorburn DR. Leigh disease caused by the mitochondrial DNA G14459A
                   mutation in unrelated families. Ann Neurol 2000;48:102-4.
               66.  Jun AS, Brown MD, Wallace DC. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene
                   associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci U S A 1994;91:6206-10.
               67.  Solano A, Roig M, Vives-Bauza C, Hernandez-Pena J, Garcia-Arumi E, et al. Bilateral striatal necrosis associated with a novel mutation
                   in the mitochondrial ND6 gene. Ann Neurol 2003;54:527-30.
               68.  Ugalde C, Triepels RH, Coenen MJ, van den Heuvel LP, Smeets R, et al. Impaired complex I assembly in a Leigh syndrome patient with
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