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

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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Bibliographic Details
Main Authors: Claudia Strafella, Giulia Campoli, Rosaria Maria Galota, Valerio Caputo, Giulia Pagliaroli, Stefania Carboni, Stefania Zampatti, Cristina Peconi, Julia Mela, Cristina Sancricca, Guido Primiano, Giulietta Minozzi, Serenella Servidei, Raffaella Cascella, Emiliano Giardina
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-06-01
Series:Frontiers in Neurology
Subjects:
LGMDs
CAPN3
LMNA
NGS panel
familial investigation
calpainopathy
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2019.00619/full

Internet

https://www.frontiersin.org/article/10.3389/fneur.2019.00619/full

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