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• W2009943592 abstract "American Journal of Medical Genetics Part AVolume 139A, Issue 2 p. 162-164 Research Letter Co-existing point mutations of mitochondrial DNA in a patient with a heart abnormality and Pearson syndrome-like symptoms Kae Munakata, Corresponding Author Kae Munakata [email protected] Laboratory for Molecular Dynamics of Mental Disorders, Brain Science Institute, Riken, Saitama, JapanLaboratory for Molecular Dynamics of Mental Disorders, Riken Brain Science Institute, 2-1 Hirosawa, Wako, Saitama, 351-0198, Japan.Search for more papers by this authorMiki Bundo, Miki Bundo Laboratory for Molecular Dynamics of Mental Disorders, Brain Science Institute, Riken, Saitama, JapanSearch for more papers by this authorTadafumi Kato, Tadafumi Kato Laboratory for Molecular Dynamics of Mental Disorders, Brain Science Institute, Riken, Saitama, JapanSearch for more papers by this authorHiroaki Ono, Hiroaki Ono Department of Pediatrics, Faculty of Medicine, Hiroshima University, Hiroshima, JapanSearch for more papers by this authorNobuo Sakura, Nobuo Sakura Department of Pediatrics, Faculty of Medicine, Hiroshima University, Hiroshima, JapanSearch for more papers by this authorMinoru Oosaki, Minoru Oosaki Department of Pediatrics, Tsuchiya General Hospital, Hiroshima, JapanSearch for more papers by this authorChiaki Waki, Chiaki Waki Department of Pediatrics, Tsuchiya General Hospital, Hiroshima, JapanSearch for more papers by this authorMasashi Tanaka, Masashi Tanaka Genomics for Longevity and Health, Tokyo Metropolitan Institute of Gerontology, Tokyo, JapanSearch for more papers by this author Kae Munakata, Corresponding Author Kae Munakata [email protected] Laboratory for Molecular Dynamics of Mental Disorders, Brain Science Institute, Riken, Saitama, JapanLaboratory for Molecular Dynamics of Mental Disorders, Riken Brain Science Institute, 2-1 Hirosawa, Wako, Saitama, 351-0198, Japan.Search for more papers by this authorMiki Bundo, Miki Bundo Laboratory for Molecular Dynamics of Mental Disorders, Brain Science Institute, Riken, Saitama, JapanSearch for more papers by this authorTadafumi Kato, Tadafumi Kato Laboratory for Molecular Dynamics of Mental Disorders, Brain Science Institute, Riken, Saitama, JapanSearch for more papers by this authorHiroaki Ono, Hiroaki Ono Department of Pediatrics, Faculty of Medicine, Hiroshima University, Hiroshima, JapanSearch for more papers by this authorNobuo Sakura, Nobuo Sakura Department of Pediatrics, Faculty of Medicine, Hiroshima University, Hiroshima, JapanSearch for more papers by this authorMinoru Oosaki, Minoru Oosaki Department of Pediatrics, Tsuchiya General Hospital, Hiroshima, JapanSearch for more papers by this authorChiaki Waki, Chiaki Waki Department of Pediatrics, Tsuchiya General Hospital, Hiroshima, JapanSearch for more papers by this authorMasashi Tanaka, Masashi Tanaka Genomics for Longevity and Health, Tokyo Metropolitan Institute of Gerontology, Tokyo, JapanSearch for more papers by this author First published: 08 November 2005 https://doi.org/10.1002/ajmg.a.31003Citations: 4Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Akanuma J, Muraki K, Komaki H, Nonaka I, Goto Y. 2000. Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene. J Hum Genet 45: 337–341. Brandon MC, Lott MT, Nguyen KC, Spolim S, Navathe SB, Baldi P, Wallace DC. 2005. MITOMAP: A human mitochondrial genome database—2004 update. Nucleic Acids Res 33: D611–D613. Chomyn A, Lai ST, Shakeley R, Bresolin N, Scarlato G, Attardi G. 1994. Platelet-mediated transformation of mtDNA-less human cells: Analysis of phenotypic variability among clones from normal individuals—And complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers. Am J Hum Genet 54: 966–974. Ingman M, Kaessmann H, Paabo S, Gyllensten U. 2000. Mitochondrial genome variation and the origin of modern humans. Nature 408: 708–713. Ingman M, Gyllensten U. 2003. Mitochondrial genome variation and evolutionary history of Australian and New Guinean Aborigines. Gen Res 13: 600–1606. King MP, Attardi G. 1989. Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation. Science 246: 500–503. Muraki K. 1999. Clinical features and molecular genetic study of Pearson syndrome. Jpn J Pediatr Hematol 13: 346–352 (Japanese). Muraki K, Goto Y, Nishino I, Hayashidani M, Takeuchi S, Horai S, Sakura N, Ueda K. 1997. Severe lactic acidosis and neonatal death in Pearson syndrome. J Inherit Metab Dis 20: 43–48. Pearson HA, Lobel JS, Kocoshis SA, Naiman JL, Windmiller J, Lammi AT, Hoffman R, Marsh JC. 1979. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediat 95: 976–984. Rossmanith W, Karwan RM. 1998. Impairment of tRNA processing by point mutations in mitochondrial tRNALeu(UUR) associated with mitochondrial diseases. FEBS Lett 433: 269–274. Rötig A, Colonna M, Bonnefont JP, Blanche S, Fischer A, Saudubray JM, Munnich A. 1989. Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. Lancet 1: 902–903. Rötig A, Cormier V, Koll F, Mize CE, Saudubray JM, Veerman A, Pearson HA, Munnich A. 1991. Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome. Genomics 10: 502–504. Rötig A, Bourgeron T, Chretien D, Rustin P, Munnich A. 1995. Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum Mol Genet 4: 1327–1330. Shanske S, Tang Y, Hirano M, Nishigaki Y, Tanji K, Bonilla E, Sue C, Krishna S, Carlo JR, Willner J, Schon EA, DiMauro S. 2002. Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with Pearson syndrome. Am J Hum Genet 71: 679–683. Tanaka M, Takeyasu T, Fuku N, Li-Jun G, Kurata M. 2004. Mitochondrial genome single nucleotide polymorphisms and their phenotypes in the Japanese. Ann NY Acad Sci 1011: 7–20. Citing Literature Volume139A, Issue21 December 2005Pages 162-164 ReferencesRelatedInformation" @default.
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