A novel heterozygous ANO3 mutation responsible for myoclonic dystonia

JOURNAL OF THE NEUROLOGICAL SCIENCES

卷:403

Letter

Laurencin, Chloe^1,2  Broussolle, Emmanuel^1,3,4  Danaila, Teodor¹  Anheim, Mathieu^5,6,7,8  Chelly, Jamel^5,6  Thobois, Stephane^1,3,4 

[1] Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Serv Neurol C, F-69000 Lyon, France

[2] Univ Claude Bernard Lyon 1, Univ Lyon, Lyon Neurosci Res Ctr, INSERM,U1028,CNRS,UMR 5292,Neuroplast & Neuropath, F-69000 Lyon, France

[3] Lyon 1 Univ, Univ Lyon, F-69373 Lyon, France

[4] CNRS, UMR 5229, Ctr Neurosci Cognit Lyon, F-69500 Bron, France

[5] Univ Strasbourg, CNRS, UMR 7104, Inst Genet & Biol Mol & Cellulaire,INSERM,U1258, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, France

[6] Hop Univ Strasbourg, Lab Diagnost Genet, F-67000 Strasbourg, France

[7] Hop Hautepierre, Hop Univ Strasbourg, Dept Neurol, Strasbourg, France

[8] FMTS, Strasbourg, France

关键词: Dystonia;    ANO3;    Myoclonic dystonia;    Tremor;   

DOI  :  10.1016/j.jns.2019.06.014

来源: Elsevier

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