Facilitations and Hurdles of Genetic Testing in Neuromuscular Disorders

Facilitations and Hurdles of Genetic Testing in Neuromuscular Disorders

Neuromuscular disorders (NMDs) comprise a heterogeneous group of disorders that affect about one in every thousand individuals worldwide. The vast majority of NMDs has a genetic cause, with about 600 genes already identified. Application of genetic testing in NMDs can be useful for several reasons:...

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Bibliographic Details
Main Authors:	Andrea Barp, Lorena Mosca, Valeria Ada Sansone
Format:	Article
Language:	English
Published:	MDPI AG 2021-04-01
Series:	Diagnostics
Subjects:	neuromuscular disease genetic testing next generation sequencing whole exome sequencing
Online Access:	https://www.mdpi.com/2075-4418/11/4/701

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