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

Christine Klein; Liu Liu; Dana Doheny; Norman Kock; Birgitt Müller; Patricia De Carvalho Aguiar; Joanne Leung; Deborah De Leon; Susan B. Bressman; Jeremy Silverman; Christopher Smith; Fabio Danisi; Chris Morrison; Ruth H. Walker; Miodrag Velickovic; Eberhard Schwinger; Patricia L. Kramer; Xandra O. Breakefield; Mitchell F. Brin; Laurie J. Ozelius

doi:10.1002/ana.10358

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

Christine Klein, Liu Liu, Dana Doheny, Norman Kock, Birgitt Müller, Patricia De Carvalho Aguiar, Joanne Leung, Deborah De Leon, Susan B. Bressman, Jeremy Silverman, Christopher Smith, Fabio Danisi, Chris Morrison, Ruth H. Walker, Miodrag Velickovic, Eberhard Schwinger, Patricia L. Kramer, Xandra O. Breakefield, Mitchell F. Brin, Laurie J. Ozelius^*

^*Corresponding author for this work

89 Citations (Scopus)

Abstract

Myoclonus-dystonia is a movement disorder associated with mutations in the ε-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.

Original language	English
Journal	Annals of Neurology
Volume	52
Issue number	5
Pages (from-to)	675-679
Number of pages	5
ISSN	0364-5134
DOIs	https://doi.org/10.1002/ana.10358
Publication status	Published - 01.11.2002

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Klein, C., Liu, L., Doheny, D., Kock, N., Müller, B., De Carvalho Aguiar, P., Leung, J., De Leon, D., Bressman, S. B., Silverman, J., Smith, C., Danisi, F., Morrison, C., Walker, R. H., Velickovic, M., Schwinger, E., Kramer, P. L., Breakefield, X. O., Brin, M. F., & Ozelius, L. J. (2002). ε-sarcoglycan mutations found in combination with other dystonia gene mutations. Annals of Neurology, 52(5), 675-679. https://doi.org/10.1002/ana.10358

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title = "ε-sarcoglycan mutations found in combination with other dystonia gene mutations",

abstract = "Myoclonus-dystonia is a movement disorder associated with mutations in the ε-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.",

author = "Christine Klein and Liu Liu and Dana Doheny and Norman Kock and Birgitt M{\"u}ller and \{De Carvalho Aguiar\}, Patricia and Joanne Leung and \{De Leon\}, Deborah and Bressman, \{Susan B.\} and Jeremy Silverman and Christopher Smith and Fabio Danisi and Chris Morrison and Walker, \{Ruth H.\} and Miodrag Velickovic and Eberhard Schwinger and Kramer, \{Patricia L.\} and Breakefield, \{Xandra O.\} and Brin, \{Mitchell F.\} and Ozelius, \{Laurie J.\}",

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Klein, C, Liu, L, Doheny, D, Kock, N, Müller, B, De Carvalho Aguiar, P, 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 2002, 'ε-sarcoglycan mutations found in combination with other dystonia gene mutations', Annals of Neurology, vol. 52, no. 5, pp. 675-679. https://doi.org/10.1002/ana.10358

TY - JOUR

T1 - ε-sarcoglycan mutations found in combination with other dystonia gene mutations

AU - Klein, Christine

AU - Liu, Liu

AU - Doheny, Dana

AU - Kock, Norman

AU - Müller, Birgitt

AU - De Carvalho Aguiar, Patricia

AU - Leung, Joanne

AU - De Leon, Deborah

AU - Bressman, Susan B.

AU - Silverman, Jeremy

AU - Smith, Christopher

AU - Danisi, Fabio

AU - Morrison, Chris

AU - Walker, Ruth H.

AU - Velickovic, Miodrag

AU - Schwinger, Eberhard

AU - Kramer, Patricia L.

AU - Breakefield, Xandra O.

AU - Brin, Mitchell F.

AU - Ozelius, Laurie J.

PY - 2002/11/1

Y1 - 2002/11/1

N2 - Myoclonus-dystonia is a movement disorder associated with mutations in the ε-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.

AB - Myoclonus-dystonia is a movement disorder associated with mutations in the ε-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.

UR - https://www.scopus.com/pages/publications/0036826889

U2 - 10.1002/ana.10358

DO - 10.1002/ana.10358

M3 - Journal articles

C2 - 12402271

AN - SCOPUS:0036826889

SN - 0364-5134

VL - 52

SP - 675

EP - 679

JO - Annals of Neurology

JF - Annals of Neurology

IS - 5

ER -

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

Abstract

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