Article
Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype.
Annals of neurology - 1 Oct 2002
Asmus Friedrich, Zimprich Alexander, Tezenas Du Montcel Sophie, Kabus Christian, Deuschl Günther, Kupsch Andreas, Ziemann Ulf, Castro Mirna, Kühn Andrea A, Strom Tim M, Vidailhet Marie, Bhatia Kailash P, Dürr Alexandra, Wood Nicholas W, Brice Alexis, Gasser Thomas
Abstract excerpt
Mutations in the gene for epsilon-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,...
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