EdenteV2, Istex, Corpus, bibRecord, 007A10

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

Identifieur interne : 007A10 ( Istex/Corpus ); précédent : 007A09; suivant : 007A11

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

Auteurs : Katja Lohmann ; Robert A. Wilcox ; Susen Winkler ; Alfredo Ramirez ; Aleksandar Rakovic ; Jin-Sung Park ; Björn Arns ; Thora Lohnau ; Justus Groen ; Meike Kasten ; Norbert Brüggemann ; Johann Hagenah ; Alexander Schmidt ; Frank J. Kaiser ; Kishore R. Kumar ; Katja Zschiedrich ; Daniel Alvarez-Fischer ; Eckart Altenmüller ; Andreas Ferbert ; Anthony E. Lang ; Alexander Münchau ; Vladimir Kostic ; Kristina Simonyan ; Marc Agzarian ; Laurie J. Ozelius ; Antonius P. M. Langeveld ; Carolyn M. Sue ; Marina A. J. Tijssen ; Christine Klein

Source :

Annals of Neurology [ 0364-5134 ] ; 2013-04.

RBID : ISTEX:F6A00D29EF6786FF6A04D8706628D149643C161B

English descriptors

Abstract

A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family.

Url:

https://api.istex.fr/document/F6A00D29EF6786FF6A04D8706628D149643C161B/fulltext/pdf

DOI: 10.1002/ana.23829

Links to Exploration step

ISTEX:F6A00D29EF6786FF6A04D8706628D149643C161B

Le document en format XML

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<author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Wilcox, Robert A" sort="Wilcox, Robert A" uniqKey="Wilcox R" first="Robert A." last="Wilcox">Robert A. Wilcox</name>
<affiliation><mods:affiliation>Department of Neurology, Flinders Medical Centre, Adelaide, Australia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Winkler, Susen" sort="Winkler, Susen" uniqKey="Winkler S" first="Susen" last="Winkler">Susen Winkler</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Department of Psychiatry and Psychotherapy, University of Bonn, Bonn, Germany</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Institute of Human Genetics, University of Bonn, Bonn, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Rakovic, Aleksandar" sort="Rakovic, Aleksandar" uniqKey="Rakovic A" first="Aleksandar" last="Rakovic">Aleksandar Rakovic</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Park, Jin Ung" sort="Park, Jin Ung" uniqKey="Park J" first="Jin-Sung" last="Park">Jin-Sung Park</name>
<affiliation><mods:affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Arns, Bjorn" sort="Arns, Bjorn" uniqKey="Arns B" first="Björn" last="Arns">Björn Arns</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Lohnau, Thora" sort="Lohnau, Thora" uniqKey="Lohnau T" first="Thora" last="Lohnau">Thora Lohnau</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Groen, Justus" sort="Groen, Justus" uniqKey="Groen J" first="Justus" last="Groen">Justus Groen</name>
<affiliation><mods:affiliation>Department of Neurology, Academic Medical Center, Amsterdam, the Netherlands</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Kasten, Meike" sort="Kasten, Meike" uniqKey="Kasten M" first="Meike" last="Kasten">Meike Kasten</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Schmidt, Alexander" sort="Schmidt, Alexander" uniqKey="Schmidt A" first="Alexander" last="Schmidt">Alexander Schmidt</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Kaiser, Frank J" sort="Kaiser, Frank J" uniqKey="Kaiser F" first="Frank J." last="Kaiser">Frank J. Kaiser</name>
<affiliation><mods:affiliation>Institute of Human Genetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Kumar, Kishore R" sort="Kumar, Kishore R" uniqKey="Kumar K" first="Kishore R." last="Kumar">Kishore R. Kumar</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Zschiedrich, Katja" sort="Zschiedrich, Katja" uniqKey="Zschiedrich K" first="Katja" last="Zschiedrich">Katja Zschiedrich</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Alvarez Ischer, Daniel" sort="Alvarez Ischer, Daniel" uniqKey="Alvarez Ischer D" first="Daniel" last="Alvarez-Fischer">Daniel Alvarez-Fischer</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Altenmuller, Eckart" sort="Altenmuller, Eckart" uniqKey="Altenmuller E" first="Eckart" last="Altenmüller">Eckart Altenmüller</name>
<affiliation><mods:affiliation>Institute of Music Physiology and Musicians' Medicine, Hanover University of Music, Drama, and Media, Hanover, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Ferbert, Andreas" sort="Ferbert, Andreas" uniqKey="Ferbert A" first="Andreas" last="Ferbert">Andreas Ferbert</name>
<affiliation><mods:affiliation>Clinic of Neurology, Kassel School of Medicine, Kassel, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
<affiliation><mods:affiliation>Morton and Gloria Shulman Movement Disorders Center and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Ontario, Toronto, Canada</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Munchau, Alexander" sort="Munchau, Alexander" uniqKey="Munchau A" first="Alexander" last="Münchau">Alexander Münchau</name>
<affiliation><mods:affiliation>Department of Neurology, University Medical Center Eppendorf, Hamburg, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Kostic, Vladimir" sort="Kostic, Vladimir" uniqKey="Kostic V" first="Vladimir" last="Kostic">Vladimir Kostic</name>
<affiliation><mods:affiliation>Department of Neurology, School of Medicine, University of Belgrade, Belgrade, Serbia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Simonyan, Kristina" sort="Simonyan, Kristina" uniqKey="Simonyan K" first="Kristina" last="Simonyan">Kristina Simonyan</name>
<affiliation><mods:affiliation>Departments of Neurology and Otolaryngology, Mount Sinai School of Medicine, NY, New York</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Agzarian, Marc" sort="Agzarian, Marc" uniqKey="Agzarian M" first="Marc" last="Agzarian">Marc Agzarian</name>
<affiliation><mods:affiliation>MRI Unit, Department of Radiology, Flinders Medical Centre, Adelaide, Australia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name>
<affiliation><mods:affiliation>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, NY, New York</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Langeveld, Antonius P M" sort="Langeveld, Antonius P M" uniqKey="Langeveld A" first="Antonius P. M." last="Langeveld">Antonius P. M. Langeveld</name>
<affiliation><mods:affiliation>Department of Otorhinolaryngology, Head and Neck Surgery, Leiden University Medical Center, Leiden, the Netherlands</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Sue, Carolyn M" sort="Sue, Carolyn M" uniqKey="Sue C" first="Carolyn M." last="Sue">Carolyn M. Sue</name>
<affiliation><mods:affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A. J." last="Tijssen">Marina A. J. Tijssen</name>
<affiliation><mods:affiliation>Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>E-mail: christine.klein@neuro.uni-luebeck.de</mods:affiliation>
</affiliation>
</author>
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<sourceDesc><biblStruct><analytic><title level="a" type="main">Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the <hi rend="italic">TUBB4</hi>
 gene</title>
<author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Wilcox, Robert A" sort="Wilcox, Robert A" uniqKey="Wilcox R" first="Robert A." last="Wilcox">Robert A. Wilcox</name>
<affiliation><mods:affiliation>Department of Neurology, Flinders Medical Centre, Adelaide, Australia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Winkler, Susen" sort="Winkler, Susen" uniqKey="Winkler S" first="Susen" last="Winkler">Susen Winkler</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Department of Psychiatry and Psychotherapy, University of Bonn, Bonn, Germany</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Institute of Human Genetics, University of Bonn, Bonn, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Rakovic, Aleksandar" sort="Rakovic, Aleksandar" uniqKey="Rakovic A" first="Aleksandar" last="Rakovic">Aleksandar Rakovic</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Park, Jin Ung" sort="Park, Jin Ung" uniqKey="Park J" first="Jin-Sung" last="Park">Jin-Sung Park</name>
<affiliation><mods:affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Arns, Bjorn" sort="Arns, Bjorn" uniqKey="Arns B" first="Björn" last="Arns">Björn Arns</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Lohnau, Thora" sort="Lohnau, Thora" uniqKey="Lohnau T" first="Thora" last="Lohnau">Thora Lohnau</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Groen, Justus" sort="Groen, Justus" uniqKey="Groen J" first="Justus" last="Groen">Justus Groen</name>
<affiliation><mods:affiliation>Department of Neurology, Academic Medical Center, Amsterdam, the Netherlands</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Kasten, Meike" sort="Kasten, Meike" uniqKey="Kasten M" first="Meike" last="Kasten">Meike Kasten</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Schmidt, Alexander" sort="Schmidt, Alexander" uniqKey="Schmidt A" first="Alexander" last="Schmidt">Alexander Schmidt</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Kaiser, Frank J" sort="Kaiser, Frank J" uniqKey="Kaiser F" first="Frank J." last="Kaiser">Frank J. Kaiser</name>
<affiliation><mods:affiliation>Institute of Human Genetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Kumar, Kishore R" sort="Kumar, Kishore R" uniqKey="Kumar K" first="Kishore R." last="Kumar">Kishore R. Kumar</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Zschiedrich, Katja" sort="Zschiedrich, Katja" uniqKey="Zschiedrich K" first="Katja" last="Zschiedrich">Katja Zschiedrich</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Alvarez Ischer, Daniel" sort="Alvarez Ischer, Daniel" uniqKey="Alvarez Ischer D" first="Daniel" last="Alvarez-Fischer">Daniel Alvarez-Fischer</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Altenmuller, Eckart" sort="Altenmuller, Eckart" uniqKey="Altenmuller E" first="Eckart" last="Altenmüller">Eckart Altenmüller</name>
<affiliation><mods:affiliation>Institute of Music Physiology and Musicians' Medicine, Hanover University of Music, Drama, and Media, Hanover, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Ferbert, Andreas" sort="Ferbert, Andreas" uniqKey="Ferbert A" first="Andreas" last="Ferbert">Andreas Ferbert</name>
<affiliation><mods:affiliation>Clinic of Neurology, Kassel School of Medicine, Kassel, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
<affiliation><mods:affiliation>Morton and Gloria Shulman Movement Disorders Center and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Ontario, Toronto, Canada</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Munchau, Alexander" sort="Munchau, Alexander" uniqKey="Munchau A" first="Alexander" last="Münchau">Alexander Münchau</name>
<affiliation><mods:affiliation>Department of Neurology, University Medical Center Eppendorf, Hamburg, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Kostic, Vladimir" sort="Kostic, Vladimir" uniqKey="Kostic V" first="Vladimir" last="Kostic">Vladimir Kostic</name>
<affiliation><mods:affiliation>Department of Neurology, School of Medicine, University of Belgrade, Belgrade, Serbia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Simonyan, Kristina" sort="Simonyan, Kristina" uniqKey="Simonyan K" first="Kristina" last="Simonyan">Kristina Simonyan</name>
<affiliation><mods:affiliation>Departments of Neurology and Otolaryngology, Mount Sinai School of Medicine, NY, New York</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Agzarian, Marc" sort="Agzarian, Marc" uniqKey="Agzarian M" first="Marc" last="Agzarian">Marc Agzarian</name>
<affiliation><mods:affiliation>MRI Unit, Department of Radiology, Flinders Medical Centre, Adelaide, Australia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name>
<affiliation><mods:affiliation>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, NY, New York</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Langeveld, Antonius P M" sort="Langeveld, Antonius P M" uniqKey="Langeveld A" first="Antonius P. M." last="Langeveld">Antonius P. M. Langeveld</name>
<affiliation><mods:affiliation>Department of Otorhinolaryngology, Head and Neck Surgery, Leiden University Medical Center, Leiden, the Netherlands</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Sue, Carolyn M" sort="Sue, Carolyn M" uniqKey="Sue C" first="Carolyn M." last="Sue">Carolyn M. Sue</name>
<affiliation><mods:affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A. J." last="Tijssen">Marina A. J. Tijssen</name>
<affiliation><mods:affiliation>Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>E-mail: christine.klein@neuro.uni-luebeck.de</mods:affiliation>
</affiliation>
</author>
</analytic>
<monogr></monogr>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abbott laboratories</term>
<term>Abnormal microtubule function</term>
<term>Australian dyt4 family</term>
<term>Australian family</term>
<term>Autoregulated instability</term>
<term>Axon guidance</term>
<term>Body habitus</term>
<term>Boehringer ingelheim</term>
<term>Brain development</term>
<term>Cervical dystonia</term>
<term>Characteristic facies</term>
<term>Control chromosomes</term>
<term>Different cell types</term>
<term>Disease controls</term>
<term>Dot1l</term>
<term>Dysphonia</term>
<term>Dystonia</term>
<term>Dyt4</term>
<term>Dyt4 dystonia</term>
<term>Dyt4 dystonia figure</term>
<term>Dyt4 family</term>
<term>Dyt4 patients</term>
<term>Expression level</term>
<term>Expression levels</term>
<term>Family members</term>
<term>Frequent missense variants</term>
<term>Generalized dystonia</term>
<term>Genome</term>
<term>Genome sequencing</term>
<term>German research foundation</term>
<term>Heterozygous mutation carrier</term>
<term>High penetrance</term>
<term>Hobby horse</term>
<term>Human genetics</term>
<term>Index patient</term>
<term>Kinesin light chain</term>
<term>Levator palpebrae superioris</term>
<term>Linkage</term>
<term>Linkage analysis</term>
<term>Lohmann</term>
<term>Major depressive disorder</term>
<term>Maximum multipoint</term>
<term>Medical research council</term>
<term>Merz pharmaceuticals</term>
<term>Microtubule</term>
<term>Missense</term>
<term>Missense variant</term>
<term>Mrei motif</term>
<term>Mrna</term>
<term>Mutant</term>
<term>Mutant allele</term>
<term>Mutant tubb4</term>
<term>Mutation</term>
<term>Mutation carrier</term>
<term>National health</term>
<term>Nerve conduction studies</term>
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<title>Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene</title>
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<orgName>University of Lübeck</orgName>
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<country key="DE">Germany</country>
</address>
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<affiliation><orgName>Institute of Music Physiology and Musicians' Medicine</orgName>
<orgName>Hanover University of Music, Drama, and Media</orgName>
<address><settlement type="city">Hanover</settlement>
<country key="DE">Germany</country>
</address>
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<orgName>Kassel School of Medicine</orgName>
<address><settlement type="city">Kassel</settlement>
<country key="DE">Germany</country>
</address>
</affiliation>
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<surname>Lang</surname>
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<country key="CA">Canada</country>
</address>
</affiliation>
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<address><settlement type="city">Hamburg</settlement>
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<orgName>Department of Radiology</orgName>
<orgName>Flinders Medical Centre</orgName>
<address><settlement type="city">Adelaide</settlement>
<country key="AU">Australia</country>
</address>
</affiliation>
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<surname>Ozelius</surname>
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<orgName>Mount Sinai School of Medicine</orgName>
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<author xml:id="author-0025"><persName><forename type="first">Antonius P. M.</forename>
<surname>Langeveld</surname>
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<affiliation><orgName>Department of Otorhinolaryngology</orgName>
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<address><settlement type="city">Leiden</settlement>
<country key="NL">the Netherlands</country>
</address>
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<author xml:id="author-0026"><persName><forename type="first">Carolyn M.</forename>
<surname>Sue</surname>
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<affiliation><orgName>Departments of Neurology and Neurogenetics</orgName>
<orgName>Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney</orgName>
<address><settlement type="city">Sydney</settlement>
<country key="AU">Australia</country>
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<affiliation><orgName>Department of Neurology</orgName>
<orgName>University Medical Center Groningen, University of Groningen</orgName>
<address><settlement type="city">Groningen</settlement>
<country key="NL">the Netherlands</country>
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<orgName>University of Lübeck</orgName>
<address><settlement type="city">Lübeck</settlement>
<country key="DE">Germany</country>
</address>
</affiliation>
<affiliation>Address correspondence to Dr Klein, Institute of Neurogenetics, University of Lübeck; Ratzeburger Allee 160; 23538 Lübeck, Germany. E‐mail: christine.klein@neuro.uni-luebeck.de</affiliation>
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<profileDesc><abstract style="main">

Objective
<p>A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family.</p>


Methods
<p>Genome‐wide linkage analysis was carried out in 14 family members followed by genome sequencing in 2 individuals. The index patient underwent a detailed neurological follow‐up examination, including electrophysiological studies and magnetic resonance imaging scanning. Biopsies of the skin and olfactory mucosa were obtained, and expression levels of <hi rend="italic">TUBB4</hi>
 mRNA were determined by quantitative real‐time polymerase chain reaction in 3 different cell types. All exons of TUBB4 were screened for mutations in 394 unrelated dystonia patients.</p>


Results
<p>The disease‐causing gene was mapped to a 23cM region on chromosome 19p13.3‐p13.2 with a maximum multipoint LOD score of 5.338 at markers D9S427 and D9S1034. Genome sequencing revealed a missense variant in the <hi rend="italic">TUBB4</hi>
 (tubulin beta‐4; Arg2Gly) gene as the likely cause of disease. Sequencing of <hi rend="italic">TUBB4</hi>
 in 394 unrelated dystonia patients revealed another missense variant (Ala271Thr) in a familial case of segmental dystonia with spasmodic dysphonia. mRNA expression studies demonstrated significantly reduced levels of mutant <hi rend="italic">TUBB4</hi>
 mRNA in different cell types from a heterozygous Arg2Gly mutation carrier compared to controls.</p>


Interpretation
<p>A mutation in <hi rend="italic">TUBB4</hi>
 causes DYT4 dystonia in this Australian family with so‐called whispering dysphonia, and other mutations in <hi rend="italic">TUBB4</hi>
 may contribute to spasmodic dysphonia. Given that TUBB4 is a neuronally expressed tubulin, our results imply abnormal microtubule function as a novel mechanism in the pathophysiology of dystonia. Ann Neurol 2013;73:537–545</p>
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<correspondenceTo>Address correspondence to Dr Klein, Institute of Neurogenetics, University of Lübeck; Ratzeburger Allee 160; 23538 Lübeck, Germany. E‐mail: <email>christine.klein@neuro.uni-luebeck.de</email>
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<contentMeta><titleGroup><title type="main">Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the <i>TUBB4</i>
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<title type="short"><i>TUBB4</i>
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<title type="shortAuthors">Lohmann et al</title>
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<creator affiliationRef="#ana23829-aff-0007" creatorRole="author" xml:id="ana23829-cr-0014"><personName><givenNames>Frank J.</givenNames>
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<creator affiliationRef="#ana23829-aff-0001" creatorRole="author" xml:id="ana23829-cr-0017"><personName><givenNames>Daniel</givenNames>
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<creator affiliationRef="#ana23829-aff-0016" creatorRole="author" xml:id="ana23829-cr-0026"><personName><givenNames>Antonius P. M.</givenNames>
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<creator affiliationRef="#ana23829-aff-0017" creatorRole="author" xml:id="ana23829-cr-0028"><personName><givenNames>Marina A. J.</givenNames>
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<creator affiliationRef="#ana23829-aff-0001" corresponding="yes" creatorRole="author" xml:id="ana23829-cr-0029"><personName><givenNames>Christine</givenNames>
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<affiliationGroup><affiliation countryCode="DE" type="organization" xml:id="ana23829-aff-0001"><orgDiv>Institute of Neurogenetics</orgDiv>
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<address><city>Lübeck</city>
<country>Germany</country>
</address>
</affiliation>
<affiliation countryCode="AU" type="organization" xml:id="ana23829-aff-0002"><orgDiv>Department of Neurology</orgDiv>
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<address><city>Adelaide</city>
<country>Australia</country>
</address>
</affiliation>
<affiliation countryCode="DE" type="organization" xml:id="ana23829-aff-0003"><orgDiv>Department of Psychiatry and Psychotherapy</orgDiv>
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<address><city>Bonn</city>
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<country>Australia</country>
</address>
</affiliation>
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</address>
</affiliation>
<affiliation countryCode="DE" type="organization" xml:id="ana23829-aff-0007"><orgDiv>Institute of Human Genetics</orgDiv>
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<address><city>Lübeck</city>
<country>Germany</country>
</address>
</affiliation>
<affiliation countryCode="DE" type="organization" xml:id="ana23829-aff-0008"><orgDiv>Institute of Music Physiology and Musicians' Medicine</orgDiv>
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<country>Germany</country>
</address>
</affiliation>
<affiliation countryCode="DE" type="organization" xml:id="ana23829-aff-0009"><orgDiv>Clinic of Neurology</orgDiv>
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</address>
</affiliation>
<affiliation countryCode="CA" type="organization" xml:id="ana23829-aff-0010"><orgDiv>Morton and Gloria Shulman Movement Disorders Center and the Edmond J. Safra Program in Parkinson's Disease</orgDiv>
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<countryPart>Ontario</countryPart>
<country>Canada</country>
</address>
</affiliation>
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<address><city>Hamburg</city>
<country>Germany</country>
</address>
</affiliation>
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<address><city>Belgrade</city>
<country>Serbia</country>
</address>
</affiliation>
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<countryPart>NY</countryPart>
</address>
</affiliation>
<affiliation countryCode="AU" type="organization" xml:id="ana23829-aff-0014"><orgDiv>MRI Unit</orgDiv>
<orgDiv>Department of Radiology</orgDiv>
<orgName>Flinders Medical Centre</orgName>
<address><city>Adelaide</city>
<country>Australia</country>
</address>
</affiliation>
<affiliation countryCode="US" type="organization" xml:id="ana23829-aff-0015"><orgDiv>Department of Genetics and Genomic Sciences</orgDiv>
<orgName>Mount Sinai School of Medicine</orgName>
<address><city>New York</city>
<countryPart>NY</countryPart>
</address>
</affiliation>
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<address><city>Leiden</city>
<country>the Netherlands</country>
</address>
</affiliation>
<affiliation countryCode="NL" type="organization" xml:id="ana23829-aff-0017"><orgDiv>Department of Neurology</orgDiv>
<orgName>University Medical Center Groningen, University of Groningen</orgName>
<address><city>Groningen</city>
<country>the Netherlands</country>
</address>
</affiliation>
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<supportingInformation><p>Additional Supporting Information may be found in the online version of this article.</p>
<supportingInfoItem><mediaResource alt="application/pdf" href="urn-x:wiley:03645134:media:ana23829:ana23829-sup-0001-suppinfo"></mediaResource>
<caption>Supplementary Information</caption>
</supportingInfoItem>
</supportingInformation>
<abstractGroup><abstract type="main"><section xml:id="ana23829-sec-0001"><title type="main">Objective</title>
<p>A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family.</p>
</section>
<section xml:id="ana23829-sec-0002"><title type="main">Methods</title>
<p>Genome‐wide linkage analysis was carried out in 14 family members followed by genome sequencing in 2 individuals. The index patient underwent a detailed neurological follow‐up examination, including electrophysiological studies and magnetic resonance imaging scanning. Biopsies of the skin and olfactory mucosa were obtained, and expression levels of <i>TUBB4</i>
 mRNA were determined by quantitative real‐time polymerase chain reaction in 3 different cell types. All exons of TUBB4 were screened for mutations in 394 unrelated dystonia patients.</p>
</section>
<section xml:id="ana23829-sec-0003"><title type="main">Results</title>
<p>The disease‐causing gene was mapped to a 23cM region on chromosome 19p13.3‐p13.2 with a maximum multipoint LOD score of 5.338 at markers D9S427 and D9S1034. Genome sequencing revealed a missense variant in the <i>TUBB4</i>
 (tubulin beta‐4; Arg2Gly) gene as the likely cause of disease. Sequencing of <i>TUBB4</i>
 in 394 unrelated dystonia patients revealed another missense variant (Ala271Thr) in a familial case of segmental dystonia with spasmodic dysphonia. mRNA expression studies demonstrated significantly reduced levels of mutant <i>TUBB4</i>
 mRNA in different cell types from a heterozygous Arg2Gly mutation carrier compared to controls.</p>
</section>
<section xml:id="ana23829-sec-0004"><title type="main">Interpretation</title>
<p>A mutation in <i>TUBB4</i>
 causes DYT4 dystonia in this Australian family with so‐called whispering dysphonia, and other mutations in <i>TUBB4</i>
 may contribute to spasmodic dysphonia. Given that TUBB4 is a neuronally expressed tubulin, our results imply abnormal microtubule function as a novel mechanism in the pathophysiology of dystonia. Ann Neurol 2013;73:537–545</p>
</section>
</abstract>
</abstractGroup>
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<mods version="3.6"><titleInfo lang="en"><title>Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene</title>
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<titleInfo type="abbreviated" lang="en"><title>TUBB4 and DYT4 Dystonia</title>
</titleInfo>
<titleInfo type="alternative" contentType="CDATA" lang="en"><title>Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene</title>
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<namePart type="family">Lohmann</namePart>
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<name type="personal"><namePart type="given">Jin‐Sung</namePart>
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<name type="personal"><namePart type="given">Thora</namePart>
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</role>
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<name type="personal"><namePart type="given">Meike</namePart>
<namePart type="family">Kasten</namePart>
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</role>
</name>
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</role>
</name>
<name type="personal"><namePart type="given">Frank J.</namePart>
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<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Kishore R.</namePart>
<namePart type="family">Kumar</namePart>
<namePart type="termsOfAddress">MBBS, FRACP</namePart>
<affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation>
<affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</affiliation>
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<name type="personal"><namePart type="given">Katja</namePart>
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</role>
</name>
<name type="personal"><namePart type="given">Daniel</namePart>
<namePart type="family">Alvarez‐Fischer</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Eckart</namePart>
<namePart type="family">Altenmüller</namePart>
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</role>
</name>
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<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Anthony E.</namePart>
<namePart type="family">Lang</namePart>
<namePart type="termsOfAddress">MD</namePart>
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<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Alexander</namePart>
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</name>
<name type="personal"><namePart type="given">Vladimir</namePart>
<namePart type="family">Kostic</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, School of Medicine, University of Belgrade, Belgrade, Serbia</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Kristina</namePart>
<namePart type="family">Simonyan</namePart>
<namePart type="termsOfAddress">MD, PhD</namePart>
<affiliation>Departments of Neurology and Otolaryngology, Mount Sinai School of Medicine, NY, New York</affiliation>
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</role>
</name>
<name type="personal"><namePart type="given">Marc</namePart>
<namePart type="family">Agzarian</namePart>
<namePart type="termsOfAddress">MD</namePart>
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</role>
</name>
<name type="personal"><namePart type="given">Laurie J.</namePart>
<namePart type="family">Ozelius</namePart>
<namePart type="termsOfAddress">PhD</namePart>
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<name type="personal"><namePart type="given">Antonius P. M.</namePart>
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<affiliation>Department of Otorhinolaryngology, Head and Neck Surgery, Leiden University Medical Center, Leiden, the Netherlands</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Carolyn M.</namePart>
<namePart type="family">Sue</namePart>
<namePart type="termsOfAddress">MBBS, FRACP, PhD</namePart>
<affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Marina A. J.</namePart>
<namePart type="family">Tijssen</namePart>
<namePart type="termsOfAddress">MD, PhD</namePart>
<affiliation>Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Christine</namePart>
<namePart type="family">Klein</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation>
<affiliation>E-mail: christine.klein@neuro.uni-luebeck.de</affiliation>
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<abstract>A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family.</abstract>
<abstract>Genome‐wide linkage analysis was carried out in 14 family members followed by genome sequencing in 2 individuals. The index patient underwent a detailed neurological follow‐up examination, including electrophysiological studies and magnetic resonance imaging scanning. Biopsies of the skin and olfactory mucosa were obtained, and expression levels of TUBB4 mRNA were determined by quantitative real‐time polymerase chain reaction in 3 different cell types. All exons of TUBB4 were screened for mutations in 394 unrelated dystonia patients.</abstract>
<abstract>The disease‐causing gene was mapped to a 23cM region on chromosome 19p13.3‐p13.2 with a maximum multipoint LOD score of 5.338 at markers D9S427 and D9S1034. Genome sequencing revealed a missense variant in the TUBB4 (tubulin beta‐4; Arg2Gly) gene as the likely cause of disease. Sequencing of TUBB4 in 394 unrelated dystonia patients revealed another missense variant (Ala271Thr) in a familial case of segmental dystonia with spasmodic dysphonia. mRNA expression studies demonstrated significantly reduced levels of mutant TUBB4 mRNA in different cell types from a heterozygous Arg2Gly mutation carrier compared to controls.</abstract>
<abstract>A mutation in TUBB4 causes DYT4 dystonia in this Australian family with so‐called whispering dysphonia, and other mutations in TUBB4 may contribute to spasmodic dysphonia. Given that TUBB4 is a neuronally expressed tubulin, our results imply abnormal microtubule function as a novel mechanism in the pathophysiology of dystonia. Ann Neurol 2013;73:537–545</abstract>
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<titleInfo type="abbreviated"><title>Ann Neurol.</title>
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<note type="content"> Additional Supporting Information may be found in the online version of this article.Supporting Info Item: Supplementary Information - </note>
<subject><genre>article-category</genre>
<topic>Original Article</topic>
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<identifier type="ISSN">0364-5134</identifier>
<identifier type="eISSN">1531-8249</identifier>
<identifier type="DOI">10.1002/(ISSN)1531-8249</identifier>
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<number>73</number>
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<extent unit="pages"><start>537</start>
<end>545</end>
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<identifier type="DOI">10.1002/ana.23829</identifier>
<identifier type="ArticleID">ANA23829</identifier>
<accessCondition type="use and reproduction" contentType="copyright">Copyright © 2012 American Neurological AssociationCopyright © 2012 American Neurological Association</accessCondition>
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Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

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