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

Authors

  • Matthis Synofzik Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany German Research Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany PubMed articlesGoogle scholar articles
  • Lilian A Martinez-Carrera Institute of Human Genetics, Institute for Genetics and Center for Molecular Medicine, Cologne, University of Cologne, Cologne, Germany PubMed articlesGoogle scholar articles
  • Tobias Lindig Department of Radiology, Diagnostic and Interventional Neuroradiology, University of Tübingen, Tübingen, Germany PubMed articlesGoogle scholar articles
  • Ludger Schöls Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany German Research Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany PubMed articlesGoogle scholar articles
  • Brunhilde Wirth Institute of Human Genetics, Institute for Genetics and Center for Molecular Medicine, Cologne, University of Cologne, Cologne, Germany PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Matthis Synofzik, Department of Neurology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Str. 3, Tübingen 72076, Germany; matthis.synofzik{at}uni-tuebingen.de
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Citation

Synofzik M, Martinez-Carrera LA, Lindig T, et al
Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype
Journal of Neurology, Neurosurgery & Psychiatry 2014;85:590-592.

Publication history

  • Received September 27, 2013
  • Revised November 8, 2013
  • Accepted November 19, 2013
  • First published December 11, 2013.
Online issue publication 
April 13, 2016

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