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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9143479/
https://www.ncbi.nlm.nih.gov/pubmed/35628876
http://dx.doi.org/10.3390/jcm11102750

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9143479/
https://www.ncbi.nlm.nih.gov/pubmed/35628876
http://dx.doi.org/10.3390/jcm11102750

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