Prolonged Episodic Dystonia in Tyrosine Hydroxylase Deficiency Due to Homozygous c.698G>A (p.Arg233His) Mutation-A Diagnostic Challenge.

Abstract

Movement Disorders Clinical PracticeVolume 9, Issue 8 p. 1136-1139 LETTERS: GENOTYPE AND PHENOTYPE Prolonged Episodic Dystonia in Tyrosine Hydroxylase Deficiency Due to Homozygous c.698G>A (p.Arg233His) Mutation-A Diagnostic Challenge Samhita Panda DM, Corresponding Author Samhita Panda DM [email protected] Departments of Neurology, All India Institute of Medical Sciences, Jodhpur, India Correspondence to: Dr. Samhita Panda, Department of Neurology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India. E-mail: [email protected]Search for more papers by this authorSaksham Jain DM, Saksham Jain DM Departments of Neurology, All India Institute of Medical Sciences, Jodhpur, IndiaSearch for more papers by this authorDhwani Dholakia MTech, PhD, Dhwani Dholakia MTech, PhD Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Delhi, IndiaSearch for more papers by this authorBharath Ram Uppilli BTech, Bharath Ram Uppilli BTech Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Delhi, IndiaSearch for more papers by this authorMohammed Faruq MBBS, PhD, Mohammed Faruq MBBS, PhD orcid.org/0000-0001-8278-8396 Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Delhi, IndiaSearch for more papers by this author Samhita Panda DM, Corresponding Author Samhita Panda DM [email protected] Departments of Neurology, All India Institute of Medical Sciences, Jodhpur, India Correspondence to: Dr. Samhita Panda, Department of Neurology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India. E-mail: [email protected]Search for more papers by this authorSaksham Jain DM, Saksham Jain DM Departments of Neurology, All India Institute of Medical Sciences, Jodhpur, IndiaSearch for more papers by this authorDhwani Dholakia MTech, PhD, Dhwani Dholakia MTech, PhD Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Delhi, IndiaSearch for more papers by this authorBharath Ram Uppilli BTech, Bharath Ram Uppilli BTech Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Delhi, IndiaSearch for more papers by this authorMohammed Faruq MBBS, PhD, Mohammed Faruq MBBS, PhD orcid.org/0000-0001-8278-8396 Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Delhi, IndiaSearch for more papers by this author First published: 22 July 2022 https://doi.org/10.1002/mdc3.13522Read 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 onFacebookTwitterLinkedInRedditWechat Volume9, Issue8November 2022Pages 1136-1139 This article also appears in:Genotype and Phenotype Letters RelatedInformation