Myoclonus-dystonia:: Detection of novel, recurrent, and de novo SGCE mutations

被引:27
作者
Hedrich, K
Meyer, EM
Schüle, B
Kock, N
Aguiar, PD
Wiegers, K
Koelman, JH
Garrels, J
Dürr, R
Liu, L
Schwinger, E
Ozelius, LJ
Landwehrmeyer, B
Stoessl, AJ
Tijssen, MAJ
Klein, C
机构
[1] Univ Lubeck, Dept Neurol, D-23538 Lubeck, Germany
[2] Univ Lubeck, Dept Human Genet, D-23538 Lubeck, Germany
[3] Albert Einstein Coll Med, Dept Mol Genet, New York, NY USA
[4] Univ Amsterdam, Acad Med Ctr, Dept Clin Neurophysiol, NL-1012 WX Amsterdam, Netherlands
[5] Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1012 WX Amsterdam, Netherlands
[6] Univ Ulm, Dept Neurol, D-89069 Ulm, Germany
[7] Univ British Columbia, Vancouver Hosp & Hlth Sci Ctr, Ctr Neurodegenerat Disorders, Vancouver, BC V5Z 1M9, Canada
关键词
D O I
10.1212/01.WNL.0000118286.75059.35
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:1229 / 1231
页数:3
相关论文
共 7 条
[1]   Myoclonus-dystonia syndrome:: ε-sarcoglycan mutations and phenotype [J].
Asmus, F ;
Zimprich, A ;
du Montcel, ST ;
Kabus, C ;
Deuschl, G ;
Kupsch, A ;
Ziemann, U ;
Castro, M ;
Kühn, AA ;
Strom, TM ;
Vidailhet, M ;
Bhatia, KP ;
Dürr, A ;
Wood, NW ;
Brice, A ;
Gasser, T .
ANNALS OF NEUROLOGY, 2002, 52 (04) :489-492
[2]   A novel mutation in the ε-sarcoglycan gene causing myoclonus-dystonia syndrome [J].
Hjermind, LE ;
Werdelin, LM ;
Eiberg, H ;
Krag-Olsen, B ;
Dupont, E ;
Sorensen, SA .
NEUROLOGY, 2003, 60 (09) :1536-1539
[3]  
Klein C, 2003, GENETICS MOVEMENT DI, P449
[4]   Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation [J].
Maréchal, L ;
Raux, G ;
Dumanchin, C ;
Lefebvre, G ;
Deslandre, E ;
Girard, C ;
Campion, D ;
Parain, D ;
Frebourg, T ;
Hannequin, D .
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2003, 119B (01) :114-117
[5]   Evidence that paternal expression of the ε-Sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia [J].
Müller, B ;
Hedrich, K ;
Kock, N ;
Dragasevic, N ;
Svetel, M ;
Garrels, J ;
Landt, O ;
Nitschke, M ;
Pramstaller, PP ;
Reik, W ;
Schwinger, E ;
Sperner, J ;
Ozelius, L ;
Kostic, V ;
Klein, C .
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (06) :1303-1311
[6]   Myoclonus dystonia - Possible association with obsessive-compulsive disorder and alcohol dependence [J].
Saunders-Pullman, R ;
Shriberg, J ;
Heiman, G ;
Raymond, D ;
Wendt, K ;
Kramer, P ;
Schilling, K ;
Kurlan, R ;
Klein, C ;
Ozelius, LJ ;
Risch, NJ ;
Bressman, SB .
NEUROLOGY, 2002, 58 (02) :242-245
[7]   Mutations in the gene encoding ε-sarcoglycan cause myoclonus-dystonia syndrome [J].
Zimprich, A ;
Grabowski, M ;
Asmus, F ;
Naumann, M ;
Berg, D ;
Bertram, M ;
Scheidtmann, K ;
Kern, P ;
Winkelmann, F ;
Müller-Myhsok, B ;
Riedel, L ;
Bauer, M ;
Müller, T ;
Castro, M ;
Meitinger, T ;
Strom, TM ;
Gasser, T .
NATURE GENETICS, 2001, 29 (01) :66-69