Homozygous C-terminal loss-of-function Na1.4 variant in a patient with congenital myasthenic syndrome.
作者信息
Echaniz-Laguna Andoni, Biancalana Valérie, Nadaj-Pakleza Aleksandra, Fournier Emmanuel, Matthews Emma, Hanna Michael G, Männikkö Roope
机构信息
Department of Neurology, APHP, CHU de Bicêtre, Le Kremlin Bicêtre, France.
French National Reference Center for Rare Neuropathies (NNERF), Le Kremlin Bicêtre, France.
出版信息
J Neurol Neurosurg Psychiatry. 2020 Aug;91(8):898-900. doi: 10.1136/jnnp-2020-323173. Epub 2020 Jun 2.
Abstract
摘要
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