The expanding phenotype of MELAS caused by the m.3291T>C mutation in the MT-TL1 gene

Molecular Genetics and Metabolism Reports - Tập 6 - Trang 64-69 - 2016
E. Kelland1, C.A. Rupar1,2,3,4,5, Asuri N. Prasad1,6,4,5, K.Y. Tay7,5, A. Downie5,8, C. Prasad1,4,5
1Department of Pediatrics, Children's Hospital London Health Sciences Centre, London, Ontario, Canada
2Department of Biochemistry, Children's Hospital London Health Sciences Centre, London, Ontario, Canada
3Department of Pathology and Laboratory Medicine, Children's Hospital London Health Sciences Centre, London, Ontario, Canada
4Children's Health Research Institute, Children's Hospital London Health Sciences Centre, London, Ontario, Canada
5Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada
6Department of Neurology, Children's Hospital London Health Sciences Centre, London, Ontario, Canada
7Medical Imaging, Children's Hospital London Health Sciences Centre, London, Ontario, Canada
8Paediatric Psychology, Children's Hospital London Health Sciences Centre, London, Ontario, Canada

Tài liệu tham khảo

Pavlakis, 1984, Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome, Ann. Neurol., 16, 481, 10.1002/ana.410160409 Finsterer, 2007, Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation, Acta Neurol. Scand., 116, 1, 10.1111/j.1600-0404.2007.00836.x Goto, 1994, A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), Biochem. Biophys. Res. Commun., 202, 1624, 10.1006/bbrc.1994.2119 Mitomap Mutations Database (2011). Available from: http://www.mitomap.org/. Human Mitochondrial Genome Database (2005). Available from: http://www.mtdb.igp.uu.se. Mamit-tRNA database (1998). Available from: http://mamit-trna.u-strasbg.fr. Ding, 2012, Is mitochondrial tRNA Leu(UUR) 3291T>C mutation pathogenic?, Mitochondrial DNA, 23, 323, 10.3109/19401736.2012.674119 Kirino, 2005, Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease, Proc. Natl. Acad. Sci. U. S. A., 102, 7127, 10.1073/pnas.0500563102 Yarham, 2013, The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease, J. Neurol. Sci., 325, 165, 10.1016/j.jns.2012.12.003 Uziel, 2000, Neuromuscular syndrome associated with the 3291T–>C mutation of mitochondrial DNA: a second case, Neuromuscul. Disord., 10, 415, 10.1016/S0960-8966(99)00115-7 Salsano, 2011, Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation, J. Neurol. Sci., 300, 165, 10.1016/j.jns.2010.09.022 Sunami, 2011, Variable phenotypes in a family with mitochondrial encephalomyopathy harboring a 3291T>C mutation in mitochondrial DNA, Neurol. Sci., 32, 861, 10.1007/s10072-011-0719-9 Liu, 2014, MERRF/MELAS overlap syndrome due to the m.3291T>C mutation, Metab. Brain Dis., 29, 139, 10.1007/s11011-013-9464-5 Emmanuele, 2011, MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation, Muscle Nerve, 44, 448, 10.1002/mus.22149 Koga, 2012, Molecular pathology of MELAS and l-arginine effects, Biochim. Biophys. Acta, 1820, 608, 10.1016/j.bbagen.2011.09.005
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Molecular Genetics and Metabolism Reports

Tập 6

64-69

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