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

Research output: Contribution to journalArticle

80 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 languageEnglish (US)
Pages (from-to)675-679
Number of pages5
JournalAnnals of Neurology
Volume52
Issue number5
DOIs
StatePublished - Nov 1 2002

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Sarcoglycans
Dystonia
Mutation
Genes
Movement Disorders
Myoclonic dystonia

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Klein, C., Liu, L., Doheny, D., Kock, N., Müller, B., De Carvalho Aguiar, P., ... 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

ε-sarcoglycan mutations found in combination with other dystonia gene mutations. / Klein, Christine; Liu, Liu; Doheny, Dana; Kock, Norman; Müller, Birgitt; De Carvalho Aguiar, Patricia; Leung, Joanne; De Leon, Deborah; Bressman, Susan B.; Silverman, Jeremy; Smith, Christopher; Danisi, Fabio; Morrison, Chris; Walker, Ruth H.; Velickovic, Miodrag; Schwinger, Eberhard; Kramer, Patricia L.; Breakefield, Xandra O.; Brin, Mitchell F.; Ozelius, Laurie J.

In: Annals of Neurology, Vol. 52, No. 5, 01.11.2002, p. 675-679.

Research output: Contribution to journalArticle

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
Klein C, Liu L, Doheny D, Kock N, Müller B, De Carvalho Aguiar P et al. ε-sarcoglycan mutations found in combination with other dystonia gene mutations. Annals of Neurology. 2002 Nov 1;52(5):675-679. https://doi.org/10.1002/ana.10358
Klein, Christine ; Liu, Liu ; Doheny, Dana ; Kock, Norman ; Müller, Birgitt ; De Carvalho Aguiar, Patricia ; Leung, Joanne ; De Leon, Deborah ; Bressman, Susan B. ; Silverman, Jeremy ; Smith, Christopher ; Danisi, Fabio ; Morrison, Chris ; Walker, Ruth H. ; Velickovic, Miodrag ; Schwinger, Eberhard ; Kramer, Patricia L. ; Breakefield, Xandra O. ; Brin, Mitchell F. ; Ozelius, Laurie J. / ε-sarcoglycan mutations found in combination with other dystonia gene mutations. In: Annals of Neurology. 2002 ; Vol. 52, No. 5. pp. 675-679.
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