Article Text

Download PDFPDF
Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome

Statistics from

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.


  • Contributors AE-L, VB, AN-P, EF, EM, MGH and RM designed and performed research, and collected the data. AE-L, EM and RM wrote the manuscript. VB, AN-P, EF and MGH critically revised the manuscript for important intellectual content.

  • Funding The molecular study (MYOdiagHTS panel) was supported by Association Française contre les Myopathies (AFM-16992) and CREGEMES.The work was supported by the UK Medical Research Council (grant MR/M006948/1).

  • Competing interests None declared.

  • Patient consent for publication Obtained.

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