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Asmus, F.* ; * ; Tezenas du Montcel, S.* ; Kabus, C.* ; Deuschl, G.* ; Kupsch, A.* ; Ziemann, U.* ; Castro, M.* ; Kühn, A.A.* ; Strom, T.M. ; Vidailhet, M.* ; Bhatia, K.P.* ; Dürr, A.* ; Wood, N.W.* ; Brice, A.* ; Gasser, Th.*

Myoclonus-Dystonia Syndrome : e-Sarcoglycan Mutations and Phenotype.

Ann. Neurol. 52, 489-492 (2002)
DOI
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Mutations in the gene for ε-sarcoglycan (SGCE) have been found to cause myoclonus-dystonia syndrome. We now report clinical and genetic findings in nine additional European families with myoclonus-dystonia syndrome. The clinical presentation in 24 affecteds was homogeneous with myoclonus predominantly of neck and upper limbs in 23 of them and dystonia, presenting as cervical dystonia and/or writer's cramp, in 13 cases. Six novel and one previously known heterozygous SGCE mutations were identified. SGCE deficiency seems to be the common pathogenetic mechanism in myoclonus-dystonia syndrome.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
ISSN (print) / ISBN 0364-5134
e-ISSN 1531-8249
Zeitschrift Annals of Neurology
Quellenangaben Band: 52, Heft: 4, Seiten: 489-492 Artikelnummer: , Supplement: ,
Verlag Wiley
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)