Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies

Neuromuscular diseases are genetically highly heterogeneous, and differential diagnosis can be challenging. Over a 3-year period, we prospectively analyzed 268 pediatric and adult patients with a suspected diagnosis of inherited neuromuscular disorder (INMD) using comprehensive gene-panel analysis a...

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Bibliographic Details

Published in:	Journal of clinical medicine Vol. 11; no. 10; p. 2750
Main Authors:	Barbosa-Gouveia, Sofia, Vázquez-Mosquera, Maria Eugenia, González-Vioque, Emiliano, Hermida-Ameijeiras, Álvaro, Sánchez-Pintos, Paula, de Castro, Maria José, León, Soraya Ramiro, Gil-Fournier, Belén, Domínguez-González, Cristina, Camacho Salas, Ana, Negrão, Luis, Fineza, Isabel, Laranjeira, Francisco, Couce, Maria Luz
Format:	Journal Article
Language:	English
Published:	Switzerland MDPI AG 12-05-2022 MDPI
Subjects:	Clinical medicine Congenital diseases Disease Gene expression Kinases Laboratories Muscular dystrophy Myasthenia gravis Patients myopathy next-generation sequencing Phenomizer neuromuscular disorders
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