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Title: epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations
Authors: Klein, C.
Liu, L.
Doheny, D.
Kock, N.
Muller, B.
Aguiar, P. D.
Leung, J.
Leon, D. de
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.
Med Univ Lubeck
Albert Einstein Coll Med
Mt Sinai Sch Med
Universidade Federal de São Paulo (UNIFESP)
Massachusetts Gen Hosp
Harvard Univ
Beth Israel Med Ctr
Vet Affairs Med Ctr
Oregon Hlth Sci Univ
Issue Date: 1-Nov-2002
Publisher: Wiley-Blackwell
Citation: Annals of Neurology. New York: Wiley-liss, v. 52, n. 5, p. 675-679, 2002.
Abstract: 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.
ISSN: 0364-5134
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