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

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Footnotes

  • Contributors MS: study concept and design, acquisition of data, writing of manuscript. LAM-C: acquisition of data, critical revision of the manuscript for important intellectual content. TL: acquisition of data, critical revision of the manuscript for important intellectual content. LS: analysis and interpretation; critical revision of the manuscript for important intellectual content. BW: acquisition of data, analysis and interpretation, study supervision, critical revision of the manuscript for important intellectual content.

  • Funding This work was supported by NeurOmics funded by the European Community's Seventh Framework Programme (FP7/2007–2013) (to LS and BW).

  • Competing interests MS received consulting fees from Actelion Pharmaceuticals Ltd.

  • Patient consent Obtained.

  • Ethics approval Ethics committee University of Tüingen, Germany.

  • Provenance and peer review Not commissioned; externally peer reviewed.