%0 Journal Article %A Andoni Echaniz-Laguna %A Valérie Biancalana %A Aleksandra Nadaj-Pakleza %A Emmanuel Fournier %A Emma Matthews %A Michael G Hanna %A Roope Männikkö %T Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome %D 2020 %R 10.1136/jnnp-2020-323173 %J Journal of Neurology, Neurosurgery & Psychiatry %P 898-900 %V 91 %N 8 %U https://jnnp.bmj.com/content/jnnp/91/8/898.full.pdf