A novel MT-CO2 m.8249G > A pathogenic variation and the MT-TW m.5521G > A mutation in patients with mitochondrial myopathy

References

• Abu-Amero KK, Bosley TM, Morales J. (2008). Analysis of nuclear and mitochondrial genes in patients with pseudoexfoliation glaucoma. Mol Vis 14:29–36
   PubMed Web of Science ®Google Scholar
• Berardo A, DiMauro S, Hirano M. (2010). A diagnostic algorithm for metabolic myopathies. Curr Neurol Neurosc Rep 10:118–26
   PubMed Web of Science ®Google Scholar
• Brown MD, Torroni A, Huoponen K, Chen YS, Lott MT, Wallace DC. (1994). Pathological significance of the mtDNA COXIII mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy. Am J Hum Genet 55:410–12
   PubMed Web of Science ®Google Scholar
• Bruno C, Cassandrini D, Fattori F, Pedemonte M, Fiorillo C, Brigati G, Brisca G, et al. (2011). Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene. Biochem Biophys Res Commun 412:518–21
   PubMed Web of Science ®Google Scholar
• Chomyn A, Enriquez JA, Micol V, Fernandez-Silva P, Attardi G. (2000). The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficieny and concomitant reduced associated of mRNA with ribosomes. J Biol Chem 275:19198–209
   PubMed Web of Science ®Google Scholar
• Flierl A, Reichmann H, Seibel P. (1997). Pathophysiology of the MELAS 3243 transition mutation. J Biol Chem 272:27189–96
   PubMed Web of Science ®Google Scholar
• Greaves LC, Reeve AK, Taylor RW, Turnbull DM. (2012). Mitochondrial DNA and disease. J Pathol 226:274–86
   PubMed Web of Science ®Google Scholar
• Hao H, Moraes CT. (1997). A disease-associated G5703A mutation in human mitochondrial DNA causes a conformational change and a marked decrease in steady-state levels of mitochondrial tRNAAsn. Mol Cell Biol 17:6831–7
   PubMed Web of Science ®Google Scholar
• Hofacker IL. (2003). Vienna RNA secondary structure server. Nucleic Acids Res 31:3429–31
   PubMed Web of Science ®Google Scholar
• Johns DR, Neufeld MJ. (1993). Cytochrome c oxidase mutations in Leber hereditary optic neuropathy. Biochem Biophys Res Commun 196:810–15
   PubMed Web of Science ®Google Scholar
• Koga Y, Davidson M, Schon EA, King MP. (1995). Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNALeu(UUR) gene. Muscle Nerve 3:S119–23
   PubMedGoogle Scholar
• Levinger L, Jacobs O, James M. (2001). In vitro 3′ end endonucleolytic processing defect in a human mitochondrial tRNASer(UCN) precursor with the U7445C substitution, which causes non-syndromic deafness. Nucleic Acids Res 29:4334–40
   PubMed Web of Science ®Google Scholar
• Lewin HA, Stewart-Haynes JA. (1992). A simple method for DNA extraction from leukocytes for use in PCR. Biotechniques 13:522–4
   PubMed Web of Science ®Google Scholar
• McFarland R, Taylor RW, Turnbull DM. (2007). Mitochondrial disease-its impact, etiology, and pathology. Curr Top Dev Biol 77:113–55
   PubMed Web of Science ®Google Scholar
• Mehta AB, Vulliamy T, Gordon-Smith EC, Luzzatto L. (1989). A new genetic polymorphism in the 16S ribosomal RNA gene of human mitochondrial DNA. Ann Hum Genet 53:303–10
   PubMed Web of Science ®Google Scholar
• Olivieri A, Achilli A, Pala M, Battaglia V, Fornarino S, Al-Zahery N, Scozzari R, et al. (2006). The mtDNA legacy of the Levantine early Upper Palaeolithic in Africa. Science 314:1767–70
   PubMed Web of Science ®Google Scholar
• Oostra RJ, Van den Bogert C, Nijtmans LG, van Galen MJ, Zwart R, Bolhuis PA, Bleeker-Wagemakers EM. (1995). Simultaneous occurrence of the 11778 (ND4) and the 9438 (COX III) mtDNA mutations in Leber hereditary optic neuropathy: Molecular, biochemical, and clinical findings. Am J Hum Genet 57:954–7
   PubMed Web of Science ®Google Scholar
• Pfeffer G, Chinnery PF. (2013). Diagnosis and treatment of mitochondrial myopathies. Ann Med 45:4–16
   PubMed Web of Science ®Google Scholar
• Pinós T, Melià MJ, Ortiz N, Martinez-Vea A, Raventós-Estellé A, Gallardo E, Hernández-Losa J, et al. (2013). Identification of the novel mutation m.5658T > C in the mitochondrial tRNA(Asn) gene in a patient with myopathy, bilateral ptosis and ophthalmoparesis, Neuromuscul Disord 23:330--6
   Google Scholar
• Rahman S, Taanman JW, Cooper JM, Nelson I, Hargreaves I, Meunier B, Hanna MG, et al. (1999). A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy. Am J Hum Genet 65:1030–9
   PubMed Web of Science ®Google Scholar
• Ramensky V, Bork P, Sunyaev S. (2002). Human non-synonymous SNPs: server and survey. Nucleic Acids Res 30:900–18
   Web of Science ®Google Scholar
• Rossmanith W, Karwan R. (1998). Impairment of tRNA processing by point mutations in mitochondrial tRNALeu(UUR) associated with mitochondrial diseases. FEBS Letters 433:269–74
   PubMed Web of Science ®Google Scholar
• Scaglia F, Wong LJ. (2008). Human mitochondrial transfer RNAs: role of pathogenic mutation in disease. Muscle Nerve 37:150–71
   PubMed Web of Science ®Google Scholar
• Schaefer AM, McFarland R, Blakely EL, He L, Whittaker RG, Taylor RW, Chinnery PF, Turnbull DM. (2008). Prevalence of mitochondrial DNA disease in adults. Ann Neurol 63:35–9
   PubMed Web of Science ®Google Scholar
• Silvestri G, Rana M, DiMuzio A, Tonali P, Servidei S. (1998). Late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNATrp gene. Neuromuscul Disord 8:291–5
   PubMed Web of Science ®Google Scholar
• Sunyaev S, Ramensky V, Koch I, Lathe W III, Kondrashov AS, Bork P. (2001). Prediction of deleterious human alleles. Hum Mol Genet 10:591–7
   PubMed Web of Science ®Google Scholar
• Wittenhagen LM, Kelley SO. (2003). Impact of disease-related mitochondrial mutations on tRNA structure and function. Trends Biochem Sci 28:605–11
   PubMed Web of Science ®Google Scholar
• Yasukawa T, Hino N, Suzuki T, Watanabe K, Ueda T, Ohta S. (2000). A pathogenic point mutation reduces stability of mitochondrial mutant tRNAIle. Nucleic Acids Res 28:3779–84
   PubMed Web of Science ®Google Scholar
• Zheng J, Ji Y, Guan MX. (2012). Mitochondrial tRNA mutations associated with deafness. Mitochondrion 12:406–13
   PubMed Web of Science ®Google Scholar