Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants

Charcot-Marie-Tooth (CMT) disease is the most prevalent inherited motor sensory neuropathy, which clusters a clinically and genetically heterogeneous group of disorders with more than 90 genes associated with different phenotypes. The goal of this study is to identify the genetic features in the rec...

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Detalles Bibliográficos
Autores principales: Ferese, Rosangela, Campopiano, Rosa, Scala, Simona, D’Alessio, Carmelo, Storto, Marianna, Buttari, Fabio, Centonze, Diego, Logroscino, Giancarlo, Zecca, Chiara, Zampatti, Stefania, Fornai, Francesco, Cianci, Vittoria, Manfroi, Elisabetta, Giardina, Emiliano, Magnani, Mauro, Suppa, Antonio, Novelli, Giuseppe, Gambardella, Stefano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8329958/
https://www.ncbi.nlm.nih.gov/pubmed/34354735
http://dx.doi.org/10.3389/fgene.2021.682050

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