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

https://doi.org/10.1136/jnnp-2020-323173

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    Footnotes

    • 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.