Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients

Background: Four main clinical phenotypes have been traditionally described in patients mutated in SCN4A, including sodium-channel myotonia (SCM), paramyotonia congenita (PMC), Hypokaliemic type II (HypoPP2), and Hyperkaliemic/Normokaliemic periodic paralysis (HyperPP/NormoPP); in addition, rare phe...

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Detalles Bibliográficos
Autores principales: Maggi, Lorenzo, Brugnoni, Raffaella, Canioni, Eleonora, Tonin, Paola, Saletti, Veronica, Sola, Patrizia, Piccinelli, Stefano Cotti, Colleoni, Lara, Ferrigno, Paola, Pini, Antonella, Masson, Riccardo, Manganelli, Fiore, Lietti, Daniele, Vercelli, Liliana, Ricci, Giulia, Bruno, Claudio, Tasca, Giorgio, Pizzuti, Antonio, Padovani, Alessandro, Fusco, Carlo, Pegoraro, Elena, Ruggiero, Lucia, Ravaglia, Sabrina, Siciliano, Gabriele, Morandi, Lucia, Dubbioso, Raffaele, Mongini, Tiziana, Filosto, Massimiliano, Tramacere, Irene, Mantegazza, Renato, Bernasconi, Pia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7403394/
https://www.ncbi.nlm.nih.gov/pubmed/32849172
http://dx.doi.org/10.3389/fneur.2020.00646

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