Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report

The diagnosis of LGMD2A (calpainopathy) can be challenging due to genetic heterogeneity and to high similarity with other LGMDs or neuromuscular disorders. In this setting, NGS panels are highly recommended to perform differential diagnosis, identify new causative mutations and enable genotype-pheno...

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Detalles Bibliográficos
Autores principales: Strafella, Claudia, Campoli, Giulia, Galota, Rosaria Maria, Caputo, Valerio, Pagliaroli, Giulia, Carboni, Stefania, Zampatti, Stefania, Peconi, Cristina, Mela, Julia, Sancricca, Cristina, Primiano, Guido, Minozzi, Giulietta, Servidei, Serenella, Cascella, Raffaella, Giardina, Emiliano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6585112/
https://www.ncbi.nlm.nih.gov/pubmed/31263448
http://dx.doi.org/10.3389/fneur.2019.00619

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