Article
Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias.
Movement disorders : official journal of the Movement Disorder Society - 1 Nov 2004
Grundmann Kathrin, Laubis-Herrmann Ulrike, Dressler Dirk, Vollmer-Haase Juliane, Bauer Peter, Stuhrmann Manfred, Schulte Thorsten, Schöls Ludger, Topka Helge, Riess Olaf
Abstract excerpt
Primary dystonias represent a clinically and genetically heterogeneous group of movement disorders. Mutations in the epsilon-sarcoglycan (SGCE) gene have been found recently to cause myoclonus-dystonia (MD). Considerable clinical variation of SGCE mutation carriers leads to the hypothesis that mutations in the SGCE gene might also be relevant for other subtypes of dystonias. To determine the contribution of...
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