Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease bu...

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Main Authors: Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda
Format: Article
Language:English
Published: Wiley 2025-07-01
Series:Annals of Clinical and Translational Neurology
Subjects:
alternative splicing
congenital myopathy
genetic diagnosis
muscular dystrophy
neuromuscular diseases
RNA sequencing
Online Access:https://doi.org/10.1002/acn3.70078
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