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Neurogenetics
Published in: neurogenetics 2/2019

01-05-2019 | Muscular Dystrophy | Review Article

Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era

Authors: Stefania Zampatti, Luca Colantoni, Claudia Strafella, Rosaria Maria Galota, Valerio Caputo, Giulia Campoli, Giulia Pagliaroli, Stefania Carboni, Julia Mela, Cristina Peconi, Stefano Gambardella, Raffaella Cascella, Emiliano Giardina

Published in: Neurogenetics | Issue 2/2019

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Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic neuromuscular disorder which mainly affects the muscles of the face, shoulder, and upper arms. FSHD is generally associated with the contraction of D4Z4 macrosatellite repeats on 4q35 chromosome or mutations in SMCHD1, which are responsible of the toxic expression of DUX4 in muscle tissue. Despite the recent application of NGS techniques in the clinical practice, the molecular diagnosis of FSHD is still performed with dated techniques such as Southern blotting. The diagnosis of FSHD requires therefore specific skills on both modern and less modern analytical protocols. Considering that clinical and molecular diagnosis of FSHD is challenging, it is not surprising that only few laboratories offer a comprehensive characterization of FSHD, which requires the education of professionals on traditional techniques even in the era of NGS. In conclusion, the study of FSHD provides an excellent example of using classical and modern molecular technologies which are equally necessary for the analysis of DNA repetitive traits associated with specific disorders.
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Metadata
Title
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era
Authors
Stefania Zampatti
Luca Colantoni
Claudia Strafella
Rosaria Maria Galota
Valerio Caputo
Giulia Campoli
Giulia Pagliaroli
Stefania Carboni
Julia Mela
Cristina Peconi
Stefano Gambardella
Raffaella Cascella
Emiliano Giardina
Publication date
01-05-2019
Publisher
Springer Berlin Heidelberg
Published in
Neurogenetics / Issue 2/2019
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI
https://doi.org/10.1007/s10048-019-00575-4

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