Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Seq...
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies
About this item
Full title
Author / Creator
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 and Couce, Maria Luz
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
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 and next-generation sequencing. The rate of diagnos...
Alternative Titles
Full title
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9143479
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9143479
Other Identifiers
ISSN
2077-0383
E-ISSN
2077-0383
DOI
10.3390/jcm11102750
