Article
The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases.
International journal of molecular sciences - 20 Apr 2021
Yubero Dèlia, Natera-de Benito Daniel, Pijuan Jordi, Armstrong Judith, Martorell Loreto, Fernàndez Guerau, Maynou Joan, Jou Cristina, Roldan Mònica, Ortez Carlos, Nascimento Andrés, Hoenicka Janet, Palau Francesc
Abstract excerpt
The diagnosis of neuromuscular diseases (NMDs) has been progressively evolving from the grouping of clinical symptoms and signs towards the molecular definition. Optimal clinical, biochemical, electrophysiological, electrophysiological, and histopathological characterization is very helpful to achieve molecular diagnosis, which is essential for establishing prognosis, treatment and genetic counselling. Currently,...
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