New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes

OBJECTIVE: To report the identification of 2 new homozygous recessive mutations in the synaptotagmin 2 (SYT2) gene as the genetic cause of severe and early presynaptic forms of congenital myasthenic syndromes (CMSs). METHODS: Next-generation sequencing identified new homozygous intronic and frameshi...

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發表在:Neurol Genet
Main Authors: Bauché, Stéphanie, Sureau, Alain, Sternberg, Damien, Rendu, John, Buon, Céline, Messéant, Julien, Boëx, Myriam, Furling, Denis, Fauré, Julien, Latypova, Xénia, Gelot, Antoinette Bernabe, Mayer, Michèle, Mary, Pierre, Whalen, Sandra, Fournier, Emmanuel, Cloix, Isabelle, Remerand, Ganaelle, Laffargue, Fanny, Nougues, Marie-Christine, Fontaine, Bertrand, Eymard, Bruno, Isapof, Arnaud, Strochlic, Laure
格式: Artigo
語言:Inglês
出版: Wolters Kluwer 2020
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7803339/
https://ncbi.nlm.nih.gov/pubmed/33659639
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000534
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