由BICD2引起的显性脊髓性肌萎缩症：一种新突变完善了表型。 - Suppr

Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype.

作者信息

Synofzik Matthis, Martinez-Carrera Lilian A, Lindig Tobias, Schöls Ludger, Wirth Brunhilde

机构信息

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, , Tübingen, Germany.

出版信息

J Neurol Neurosurg Psychiatry. 2014 May;85(5):590-2. doi: 10.1136/jnnp-2013-306777. Epub 2013 Dec 11.

DOI:10.1136/jnnp-2013-306777

PMID:24336790

Abstract

摘要

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Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype.

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