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Page 182 Sulaiman et al. J Transl Genet Genom 2020;4:159-87 I https://doi.org/10.20517/jtgg.2020.27

a novel missense mutation in the ND6 gene. Ann Neurol 2003;54:665-9.
69. Howell N, Bindoff LA, McCullough DA, Kubacka I, Poulton J, et al. Leber hereditary optic neuropathy: identification of the same
mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet 1991;49:939-50.
70. Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus ML. A new mtDNA mutation associated with Leber hereditary optic
neuroretinopathy. Am J Hum Genet 1991;48:1147-53.
71. Wallace D, Singh G, Lott M, Hodge J, Schurr T, et al. Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy.
Science 1988;242:1427-30.
72. Brown MD, Voljavec AS, Lott MT, MacDonald I, Wallace DC. Leber’s hereditary optic neuropathy: a model for mitochondrial
neurodegenerative diseases. Faseb J 1992;6:2791-9.
73. Johns DR, Neufeld MJ, Park RD. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem
Biophys Res Commun 1992;187:1551-7.
74. Tawata M, Ohtaka M, Iwase E, Ikegishi Y, Aida K, et al. New mitochondrial DNA homoplasmic mutations associated with Japanese
patients with type 2 diabetes. Diabetes 1998;47:276-7.
75. Blakely EL, de Silva R, King A, Schwarzer V, Harrower T, et al. LHON/MELAS overlap syndrome associated with a mitochondrial
MTND1 gene mutation. Eur J Hum Genet 2005;13:623-7.
76. Sakuta R, Goto Y, Nonaka I, Horai S. An A-to-G transition at nucleotide pair 11084 in the ND4 gene may be an mtDNA polymorphism.
Am J Hum Genet 1993;53:964-5.
77. Lertrit P, Noer AS, Jean-Francois MJ, Kapsa R, Dennett X, et al. A new disease-related mutation for mitochondrial encephalopathy
lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I. Am J Hum Genet
1992;51:457-68.
78. Liolitsa D, Rahman S, Benton S, Carr LJ, Hanna MG. Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing
mutations? Ann Neurol 2003;53:128-32.
79. Crimi M, Galbiati S, Moroni I, Bordoni A, Perini MP, et al. A missense mutation in the mitochondrial ND5 gene associated with a Leigh-
MELAS overlap syndrome. Neurology 2003;60:1857-61.
80. Santorelli FM, Tanji K, Kulikova R, Shanske S, Vilarinho L, et al. Identification of a novel mutation in the mtDNA ND5 gene associated
with MELAS. Biochem Biophys Res Commun 1997;238:326-8.
81. Corona P, Antozzi C, Carrara F, D’Incerti L, Lamantea E, et al. A novel mtDNA mutation in the ND5 subunit of complex I in two
MELAS patients. Ann Neurol 2001;49:106-10.
82. Ravn K, Wibrand F, Hansen FJ, Horn N, Rosenberg T, et al. An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6
associated with severe MELAS syndrome. Eur J Hum Genet 2001;9:805-9.
83. De Coo IF, Renier WO, Ruitenbeek W, Ter Laak HJ, Bakker M, et al. A 4-base pair deletion in the mitochondrial cytochrome b gene
associated with parkinsonism/MELAS overlap syndrome. Ann Neurol 1999;45:130-3.
84. Goto Y, Nonaka I, Horai S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial
encephalomyopathies. Nature 1990;348:651-3.
85. Varlamov DA, Kudin AP, Vielhaber S, Schroder R, Sassen R, et al. Metabolic consequences of a novel missense mutation of the mtDNA
CO I gene. Hum Mol Genet 2002;11:1797-805.
86. Andreu AL, Hanna MG, Reichmann H, Bruno C, Penn AS, et al. Exercise intolerance due to mutations in the cytochrome b gene of
mitochondrial DNA. N Engl J Med 1999;341:1037-44.
87. Comi GP, Bordoni A, Salani S, Franceschina L, Sciacco M, et al. Cytochrome c oxidase subunit I microdeletion in a patient with motor
neuron disease. Ann Neurol 1998;43:110-6.
88. Clark KM, Taylor RW, Johnson MA, Chinnery PF, Chrzanowska-Lightowlers ZM, et al. An mtDNA mutation in the initiation codon of
the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy. Am J Hum Genet
1999;64:1330-9.
89. Campos Y, Garcia-Redondo A, Fernandez-Moreno MA, Martinez-Pardo M, Goda G, et al. Early-onset multisystem mitochondrial
disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene. Ann Neurol 2001;50:409-13.
90. Wong LJ, Dai P, Tan D, Lipson M, Grix A, et al. Severe lactic acidosis caused by a novel frame-shift mutation in mitochondrial-encoded
cytochrome c oxidase subunit II. Am J Med Genet 2001;102:95-9.
91. Hanna MG, Nelson IP, Rahman S, Lane RJ, Land J, et al. Cytochrome c oxidase deficiency associated with the first stop-codon point
mutation in human mtDNA. Am J Hum Genet 1998;63:29-36.
92. Manfredi G, Schon EA, Moraes CT, Bonilla E, Berry GT, et al. A new mutation associated with MELAS is located in a mitochondrial
DNA polypeptide-coding gene. Neuromuscul Disord 1995;5:391-8.
93. Temperley RJ, Seneca SH, Tonska K, Bartnik E, Bindoff LA, et al. Investigation of a pathogenic mtDNA microdeletion reveals a
translation-dependent deadenylation decay pathway in human mitochondria. Hum Mol Genet 2003;12:2341-8.
94. Wibrand F, Ravn K, Schwartz M, Rosenberg T, Horn N, et al. Multisystem disorder associated with a missense mutation in the
mitochondrial cytochrome b gene. Ann Neurol 2001;50:540-3.
95. Schuelke M, Krude H, Finckh B, Mayatepek E, Janssen A, et al. Septo-optic dysplasia associated with a new mitochondrial cytochrome b
mutation. Ann Neurol 2002;51:388-92.
96. Andreu AL, Bruno C, Dunne TC, Tanji K, Shanske S, et al. A nonsense mutation (G15059A) in the cytochrome b gene in a patient with
exercise intolerance and myoglobinuria. Ann Neurol 1999;45:127-30.
97. Legros F, Chatzoglou E, Frachon P, Ogier De Baulny H, Laforet P, et al. Functional characterization of novel mutations in the human