You are here

  • Home
  • Archive
  • Volume 88, Issue 10
  • A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)

Article Text

Article menu
Download PDFPDF
PostScript
Letter
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)

https://doi.org/10.1136/jnnp-2016-315525

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Footnotes

    • Contributors EG designed the experimental plan, performed experiments, analysed data, and drafted and revised the paper. GV, PB, DD, CME and MTG contributed to the clinical definition to the clinical, neuroradiological and ophthalmological definition of the patient phenotype. NLB, CD, CM, SC, EDG, EP, MF and AB contributed to the experimental work and/or performed data analysis and interpretation. All authors revised the paper.

    • Funding This work was supported by MURST60% and Associazione ‘EE Rulfo per la Genetica Medica’ (to AB).

    • Competing interests None declared.

    • Patient consent Obtained.

    • Ethics approval Internal Review Board Committee of the Department of Medical Sciences (University of Torino).

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