RT Journal Article SR Electronic T1 Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome JF Journal of Neurology, Neurosurgery & Psychiatry JO J Neurol Neurosurg Psychiatry FD BMJ Publishing Group Ltd SP 898 OP 900 DO 10.1136/jnnp-2020-323173 VO 91 IS 8 A1 Andoni Echaniz-Laguna A1 Valérie Biancalana A1 Aleksandra Nadaj-Pakleza A1 Emmanuel Fournier A1 Emma Matthews A1 Michael G Hanna A1 Roope Männikkö YR 2020 UL http://jnnp.bmj.com/content/91/8/898.abstract AB