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Leukoencephalopathia, demyelinating peripheral neuropathy and dural ectasia explained by a not formerly described de novo mutation in the SAMD9L gene, ends 27 years of investigations – a case report

Crossref DOI link: https://doi.org/10.1186/s12883-019-1319-1

Published Online: 2019-05-03

Published Print: 2019-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Thunström, Sofia

Axelsson, Markus http://orcid.org/0000-0003-2036-4007
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Article History

Received: 27 November 2018

Accepted: 26 April 2019

First Online: 3 May 2019

Ethics approval and consent to participate

: Not Applicable.

: The patient has given a written consent for publication of the case report and the images.

: ST has no financial or nonfinancial disclosures.MA has received compensation for lectures and/or advisory boards from Biogen, Genzyme, and Novartis.

: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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