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

Echaniz-Laguna, A; Biancalana, V; Nadaj-Pakleza, A; Fournier, E; Matthews, E; Hanna, MG; Männikkö, R; (2020) Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome. Journal of Neurology, Neurosurgery, and Psychiatry , 91 (8) pp. 898-900. 10.1136/jnnp-2020-323173. Green open access

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Type: Article
Title: Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1136/jnnp-2020-323173
Publisher version: https://doi.org/10.1136/jnnp-2020-323173
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10107087
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