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Article: Stiff child syndrome with mutation of DYT1 gene

TitleStiff child syndrome with mutation of DYT1 gene
Authors
Wong, VCNLam, CWFung, CW
Issue Date2005
PublisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.neurology.org
Citation
Neurology, 2005, v. 65 n. 9, p. 1465-1466 How to Cite?
DOI: http://dx.doi.org/10.1212/01.wnl.0000183153.82651.72
AbstractThe authors report a Chinese boy with a DYT1 gene mutation having muscle stiffness, severe painful muscle spasm, myoclonus, and dystonia compatible with stiff child syndrome. Autoantibodies to glutamic acid decarboxylase (anti-GAD) were absent. His asymptomatic mother had a DYT1 mutation. His asymptomatic sister has diabetes mellitus and antibodies to glutamic acid decarboxylase but no DYT1 mutation. Copyright © 2005 by AAN Enterprises, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/143542
ISSN
0028-3878
2023 Impact Factor: 7.7
2023 SCImago Journal Rankings: 2.404
ISI Accession Number ID
WOS:000233114100026
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorWong, VCNen_HK
dc.contributor.authorLam, CWen_HK
dc.contributor.authorFung, CWen_HK
dc.date.accessioned2011-12-12T03:51:39Z-
dc.date.available2011-12-12T03:51:39Z-
dc.date.issued2005en_HK
dc.identifier.citationNeurology, 2005, v. 65 n. 9, p. 1465-1466en_HK
dc.identifier.issn0028-3878en_HK
dc.identifier.urihttp://hdl.handle.net/10722/143542-
dc.description.abstractThe authors report a Chinese boy with a DYT1 gene mutation having muscle stiffness, severe painful muscle spasm, myoclonus, and dystonia compatible with stiff child syndrome. Autoantibodies to glutamic acid decarboxylase (anti-GAD) were absent. His asymptomatic mother had a DYT1 mutation. His asymptomatic sister has diabetes mellitus and antibodies to glutamic acid decarboxylase but no DYT1 mutation. Copyright © 2005 by AAN Enterprises, Inc.en_HK
dc.languageengen_US
dc.publisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.neurology.orgen_HK
dc.relation.ispartofNeurologyen_HK
dc.subject.meshAsian Continental Ancestry Groupen_US
dc.subject.meshAutoantibodies/genetics/immunologyen_US
dc.subject.meshChilden_US
dc.subject.meshDNA Mutational Analysisen_US
dc.subject.meshDisease Progressionen_US
dc.subject.meshDystonia/diagnosis/genetics/physiopathologyen_US
dc.subject.meshGABA Agonists/therapeutic useen_US
dc.subject.meshGenetic Predisposition to Disease/*geneticsen_US
dc.subject.meshGenetic Testingen_US
dc.subject.meshGlutamate Decarboxylase/immunologyen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHong Kongen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMolecular Chaperones/*geneticsen_US
dc.subject.meshMuscle Spasticity/diagnosis/genetics/physiopathologyen_US
dc.subject.meshMuscle, Skeletal/innervation/*physiopathologyen_US
dc.subject.meshMutation/*geneticsen_US
dc.subject.meshPlasmapheresisen_US
dc.subject.meshStiff-Person Syndrome/diagnosis/*genetics/*physiopathologyen_US
dc.subject.meshTreatment Outcomeen_US
dc.subject.meshgamma-Aminobutyric Acid/metabolismen_US
dc.titleStiff child syndrome with mutation of DYT1 geneen_HK
dc.typeArticleen_HK
dc.identifier.emailWong, VCN:vcnwong@hku.hken_HK
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_HK
dc.identifier.authorityWong, VCN=rp00334en_HK
dc.identifier.authorityLam, CW=rp00260en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1212/01.wnl.0000183153.82651.72en_HK
dc.identifier.pmid16275837en_HK
dc.identifier.scopuseid_2-s2.0-27644541397en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-27644541397&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume65en_HK
dc.identifier.issue9en_HK
dc.identifier.spage1465en_HK
dc.identifier.epage1466en_HK
dc.identifier.isiWOS:000233114100026-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridWong, VCN=7202525632en_HK
dc.identifier.scopusauthoridLam, CW=34570692600en_HK
dc.identifier.scopusauthoridFung, CW=7102443761en_HK
dc.identifier.issnl0028-3878-

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