ε-sarcoglycan mutations found in combination with other dystonia gene mutations

被引：75

作者：

Klein, C

Liu, L

Doheny, D

Kock, N

Müller, B

Aguiar, PD

Leung, J

de Leon, D

Bressman, SB

Silverman, J

Smith, C

Danisi, F

Morrison, C

Walker, RH

Velickovic, M

Schwinger, E

Kramer, PL

Breakefield, XO

Brin, MF

Ozelius, LJ

机构：

[1] Med Univ Lubeck, Dept Neurol, D-23538 Lubeck, Germany

[2] Med Univ Lubeck, Dept Human Genet, D-23538 Lubeck, Germany

[3] Albert Einstein Coll Med, Dept Mol Genet, Bronx, NY 10461 USA

[4] Mt Sinai Sch Med, Dept Neurol, New York, NY USA

[5] Univ Fed Sao Paulo, Dept Neurol & Neurosurg, Sao Paulo, Brazil

[6] Massachusetts Gen Hosp, Dept Neurol, Charlestown, MA USA

[7] Harvard Univ, Sch Med, Charlestown, MA USA

[8] Beth Israel Deaconess Med Ctr, Dept Neurol, New York, NY 10003 USA

[9] Vet Affairs Med Ctr, Dept Neurol, Bronx, NY USA

[10] Oregon Hlth & Sci Univ, Dept Neurol, Portland, OR 97201 USA

来源：

ANNALS OF NEUROLOGY | 2002年 / 52卷 / 05期

关键词：

D O I：

10.1002/ana.10358

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Myoclonus-dystonia is a movement disorder associated with mutations in the c-sarcoglycan gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families. In both of the latter families, we also found a mutation of SGCE. The molecular mechanisms through which the detected mutations may contribute to myoclonus-dystonia remain to be determined.

引用

页码：675 / 679

页数：5

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