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

Authors

  • Andoni Echaniz-Laguna Department of Neurology, APHP, CHU de Bicêtre, Le Kremlin Bicêtre, France French National Reference Center for Rare Neuropathies (NNERF), Le Kremlin Bicêtre, France INSERM U1195 & Paris-Sud University, Le Kremlin Bicêtre, France PubMed articlesGoogle scholar articles
  • Valérie Biancalana Laboratoire Diagnostic Génétique, CHR, Strasbourg, France Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR 7104, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Illkirch, France PubMed articlesGoogle scholar articles
  • Aleksandra Nadaj-Pakleza Department of Neurology, Strasbourg University Hospital, Strasbourg, France PubMed articlesGoogle scholar articles
  • Emmanuel Fournier Department of Neurophysiology, APHP, CHU Pitié-Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Emma Matthews Department of Neuromuscular disease, UCL Queen Sqaure Institute of Neurology, London, United Kingdom PubMed articlesGoogle scholar articles
  • Michael G Hanna Department of Neuromuscular disease, UCL Queen Sqaure Institute of Neurology, London, United Kingdom PubMed articlesGoogle scholar articles
  • Roope Männikkö Department of Neuromuscular disease, UCL Queen Sqaure Institute of Neurology, London, United Kingdom PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Roope Männikkö, Department of Neuromuscular disease, UCL Queen Square Institute of Neurology, London, UK; r.mannikko{at}ucl.ac.uk
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Citation

Echaniz-Laguna A, Biancalana V, Nadaj-Pakleza A, et al
Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome
Journal of Neurology, Neurosurgery & Psychiatry 2020;91:898-900.

Publication history

  • Received March 6, 2020
  • Revised April 24, 2020
  • Accepted May 2, 2020
  • First published June 2, 2020.
Online issue publication 
November 15, 2022

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© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.