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• W4386143012 abstract "Movement Disorders Clinical PracticeVolume 10, Issue S3 p. S51-S53 CASE REPORT Generalized Dystonia Due to KMT2B Mutation in a Patient with a Previous Diagnosis of Russell Silver Syndrome Heather Heiser MD, Corresponding Author Heather Heiser MD [email protected] Department of Neurology, University of Colorado, Aurora, Colorado, USA Correspondence to: Heather Heiser, Department of Neurology, University of Colorado, Aurora, CO, USA; E-mail: [email protected]Search for more papers by this authorKaitlin Smith MS, CGC, Kaitlin Smith MS, CGC Department of Neurology, University of Colorado, Aurora, Colorado, USASearch for more papers by this authorJessica Duis MD, Jessica Duis MD Department of Pediatrics, Children's Hospital Colorado, Aurora, Colorado, USASearch for more papers by this authorEmily Forbes DO, Emily Forbes DO Department of Neurology, University of Colorado, Aurora, Colorado, USASearch for more papers by this author Heather Heiser MD, Corresponding Author Heather Heiser MD [email protected] Department of Neurology, University of Colorado, Aurora, Colorado, USA Correspondence to: Heather Heiser, Department of Neurology, University of Colorado, Aurora, CO, USA; E-mail: [email protected]Search for more papers by this authorKaitlin Smith MS, CGC, Kaitlin Smith MS, CGC Department of Neurology, University of Colorado, Aurora, Colorado, USASearch for more papers by this authorJessica Duis MD, Jessica Duis MD Department of Pediatrics, Children's Hospital Colorado, Aurora, Colorado, USASearch for more papers by this authorEmily Forbes DO, Emily Forbes DO Department of Neurology, University of Colorado, Aurora, Colorado, USASearch for more papers by this author First published: 24 August 2023 https://doi.org/10.1002/mdc3.13794Citations: 1 Relevant disclosures and conflict of interest are listed at the end of this article. Read 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 1Wakeling EL, Brioude F, Lokulo-Sodipe O, et al. Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol 2017; 13(2): 105–124. 2Moore G, Abu-Amero S, Wakeling E, Hitchins M, Monk D, Stanier P, Preece M. The search for the gene for Silver-Russell syndrome. Acta Paediatr 1999; 88(s433): 42–48. 3Hannula K, Lipsanen-Nyman M, Kontiokari T, Kere J. A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region. Am J Hum Genet 2001; 68(1): 247–253. 4Zimprich A, Grabowski M, Asmus F, et al. Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndrome. Nat Genet 2001; 29(1): 66–69. 5Guettard É, Portnoi MF, Lohmann-Hedrich K, Keren B, Rossignol S, Winkler S, et al. Myoclonus-dystonia due to maternal uniparental disomy. Arch Neurol 2008; 65(10): 1380–1385. 6Stark Z, Ryan MM, Bruno DL, Burgess T, Savarirayan R. Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7. Am J Med Genet 2010; 152A(9): 2342–2345. 7Shpiner DS, Bardos J, Barbouth DS, Moore HP. Uniparental disomy causing myoclonus dystonia associated with Russell Silver syndrome. Mov Disord Clin Pract 2019; 6(5): 409–410. 8Augustine EF, Blackburn J, Pellegrino JE, Miller R, Mink JW. Myoclonus-dystonia syndrome associated with Russell Silver syndrome. Mov Disord 2013; 28(6): 841–842. 9Sheridan M, Bytyci Telegrafi A, Stinnett V, et al. Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7: Myoclonus-dystonia and Silver-Russell syndrome. Clin Genet 2013; 84(4): 368–372. 10Cif L, Demailly D, Lin JP, et al. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Brain 2020; 143(11): 3242–3261. Citing Literature Volume10, IssueS3Supplement: Cases from the 2022 International CongressAugust 2023Pages S51-S53 ReferencesRelatedInformation" @default.
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