NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia

Introduction/Aims HyperCKemia is considered a hallmark of neuromuscular diseases. It can be either isolated or associated with cramps, myalgia, weakness, myoglobinuria, or rhabdomyolysis, suggesting a metabolic myopathy. The aim of this work was to investigate possible genetic causes in order to hel...

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Detalles Bibliográficos
Autores principales: Invernizzi, Federica, Izzo, Rossella, Colangelo, Isabel, Legati, Andrea, Zanetti, Nadia, Garavaglia, Barbara, Lamantea, Eleonora, Peverelli, Lorenzo, Ardissone, Anna, Moroni, Isabella, Maggi, Lorenzo, Bonanno, Silvia, Fiori, Laura, Velardo, Daniele, Magri, Francesca, Comi, Giacomo P., Ronchi, Dario, Ghezzi, Daniele, Lamperti, Costanza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379733/
https://www.ncbi.nlm.nih.gov/pubmed/37510298
http://dx.doi.org/10.3390/genes14071393

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