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Case study of sporadic mitochondrial disease with myotonic discharges and optic atrophy

2012; Wiley; Volume: 47; Issue: 2 Linguagem: Inglês

10.1002/mus.23641

1097-4598

Aysun Soysal, Burcu Yüksel, Birgit Czermin, Selcen Aydemir, Betül Tuğcu, Fikret Aysal, Baki Arpacı,

Genetic Neurodegenerative Diseases

Muscle & NerveVolume 47, Issue 2 p. 308-309 Letter to the Editor Case study of sporadic mitochondrial disease with myotonic discharges and optic atrophy Aysun Soysal Assist. Prof,, Aysun Soysal Assist. Prof, Department of Neurology, Bakirkoy Research and Training Hospital for Psychiatry, Neurology and Neurosurgery, Istanbul, TurkeySearch for more papers by this authorBurcu Yüksel MD,, Burcu Yüksel MD, Department of Neurology, Bakirkoy Research and Training Hospital for Psychiatry, Neurology and Neurosurgery, Istanbul, TurkeySearch for more papers by this authorBirgit Czermin PhD,, Birgit Czermin PhD, Medical Genetic Center, Munich, GermanySearch for more papers by this authorSelcen Aydemir MD,, Selcen Aydemir MD, Department of Neurology, Bakirkoy Research and Training Hospital for Psychiatry, Neurology and Neurosurgery, Istanbul, TurkeySearch for more papers by this authorBetül Tuğcu MD,, Betül Tuğcu MD, Department of Ophthalmology, Bakirkoy Dr. Sadi Konuk Research and Training Hospital, Istanbul, TurkeySearch for more papers by this authorFikret Aysal MD,, Fikret Aysal MD, Department of Neurology, Bakirkoy Research and Training Hospital for Psychiatry, Neurology and Neurosurgery, Istanbul, TurkeySearch for more papers by this authorBaki Arpaci Assist. Prof,, Baki Arpaci Assist. Prof, Department of Neurology, Bakirkoy Research and Training Hospital for Psychiatry, Neurology and Neurosurgery, Istanbul, TurkeySearch for more papers by this author Aysun Soysal Assist. Prof,, Aysun Soysal Assist. Prof, Department of Neurology, Bakirkoy Research and Training Hospital for Psychiatry, Neurology and Neurosurgery, Istanbul, TurkeySearch for more papers by this authorBurcu Yüksel MD,, Burcu Yüksel MD, Department of Neurology, Bakirkoy Research and Training Hospital for Psychiatry, Neurology and Neurosurgery, Istanbul, TurkeySearch for more papers by this authorBirgit Czermin PhD,, Birgit Czermin PhD, Medical Genetic Center, Munich, GermanySearch for more papers by this authorSelcen Aydemir MD,, Selcen Aydemir MD, Department of Neurology, Bakirkoy Research and Training Hospital for Psychiatry, Neurology and Neurosurgery, Istanbul, TurkeySearch for more papers by this authorBetül Tuğcu MD,, Betül Tuğcu MD, Department of Ophthalmology, Bakirkoy Dr. Sadi Konuk Research and Training Hospital, Istanbul, TurkeySearch for more papers by this authorFikret Aysal MD,, Fikret Aysal MD, Department of Neurology, Bakirkoy Research and Training Hospital for Psychiatry, Neurology and Neurosurgery, Istanbul, TurkeySearch for more papers by this authorBaki Arpaci Assist. Prof,, Baki Arpaci Assist. Prof, Department of Neurology, Bakirkoy Research and Training Hospital for Psychiatry, Neurology and Neurosurgery, Istanbul, TurkeySearch for more papers by this author First published: 02 October 2012 https://doi.org/10.1002/mus.23641Read 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 No abstract is available for this article. References 1 Di Fonzo A, Bordoni A, Crimi M, Sara G, Del Bo, Bresolin N, et al. POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. Hum Mutat 2003; 22: 498–499. 2 Baruffini E, Lodi T, Dallabona C, Puglisi A, Zeviani M, Ferrero I. Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans. Hum Mol Genet 2006; 15: 2846–2855. 3 Gonzalez-Vioque E, Blazquez A, Fernandez-Moreira D, Bornstein B, Bautista J, Arpa J, et al. Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in Spanish population. Arch Neurol 2006; 63: 107–111. 4Pathogenic and polymorphic mutations: http://mamit-trna.u-strasbg.fr/mutations.asp?idAA=21; mitoWheel: http://www.mitowheel.org/mitowheel.html. 5 Helm M, Brule H, Friede D, Giege R, Puetz D, Florentz C. Search for characteristic structural features of mammalian mitochondrial tRNAs. RNA 2000; 6: 1356–1379. 6 Dumitru D, Amato AA. 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Acta Neurol Scand 2006; 114: 217–238. 11 Howse MLP, Wardell TM, Fisher CJ, Tilley PJB, Chinnery PF, Bindoff L. Late-onset mitochondrial disorder with electromyographic evidence of myotonia. Muscle Nerve 2003; 28: 757–759. Volume47, Issue2February 2013Pages 308-309 ReferencesRelatedInformation