Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.

doi:10.3390/genes11050539

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Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.

Genes - 11 May 2020

Gonzalez-Quereda Lidia, Rodriguez Maria Jose, Diaz-Manera Jordi, Alonso-Perez Jorge, Gallardo Eduard, Nascimento Andres, Ortez Carlos, Natera-de Benito Daniel, Olive Montse, Gonzalez-Mera Laura, Munain Adolfo Lopez de, Zulaica Miren, Poza Juan Jose, Jerico Ivonne, Torne Laura, Riera Pau, Milisenda Jose, Sanchez Aurora, Garrabou Gloria, Llano Isabel, Madruga-Garrido Marcos, Gallano Pia

Abstract excerpt

The term neuromuscular disorder (NMD) includes many genetic and acquired diseases and differential diagnosis can be challenging. Next-generation sequencing (NGS) is especially useful in this setting given the large number of possible candidate genes, the clinical, pathological, and genetic heterogeneity, the absence of an established genotype-phenotype correlation, and the exceptionally large size of some...

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PMID: 32403337
DOI: 10.3390/genes11050539
PMCID: PMC7288461

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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