A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement

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Veröffentlicht in:Movement disorders 2015-09, Vol.30 (10), p.1431-1432
Hauptverfasser: Doummar, Diane, Mignot, Cyril, Apartis, Emmanuelle, Villard, Laurent, Rodriguez, Diana, Chantot-Bastauraud, Sandra, Burglen, Lydie
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container_end_page 1432
container_issue 10
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container_title Movement disorders
container_volume 30
creator Doummar, Diane
Mignot, Cyril
Apartis, Emmanuelle
Villard, Laurent
Rodriguez, Diana
Chantot-Bastauraud, Sandra
Burglen, Lydie
description
doi_str_mv 10.1002/mds.26303
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subjects Carrier Proteins - genetics
Cerebellar Diseases - genetics
Cerebellar Diseases - pathology
Cerebellar Diseases - physiopathology
Child
Consanguinity
Humans
Male
Movement disorders
Mutation
Myoclonus - genetics
Myoclonus - physiopathology
title A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement
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