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Expanding the phenotype toward spastic paraparesis: A mutation in the M2 domain.

作者信息

Waalkens Anne J E, Vansenne Fleur, van der Hout Annemarie H, Zutt Rodi, Mourmans Jeroen, Tolosa Eduardo, de Koning Tom J, Tijssen Marina A J

机构信息

Department of Neurology (A.J.E.W., R.Z., M.A.J.T.), and Department of Genetics (F.V., A.H.v.d.H., T.J.d.K.), University Medical Center Groningen, University of Groningen; Department of Pediatrics (J.M.), Deventer Hospital, The Netherlands; and Parkinson's Disease and Movement Disorders Unit (E.T.), Hospital Clinic of Barcelona, Institut Clínic de Neurociències, Barcelona, Spain.

出版信息

Neurol Genet. 2018 Jan 24;4(1):e214. doi: 10.1212/NXG.0000000000000214. eCollection 2018 Feb.

Abstract
摘要

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A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.
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