Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients

Inherited muscle disorders are caused by pathogenic changes in numerous genes. Herein, we aimed to investigate the etiology of muscle disease in 24 consecutive Greek patients with myopathy suspected to be genetic in origin, based on clinical presentation and laboratory and electrophysiological findi...

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Detalles Bibliográficos
Autores principales: Zaganas, Ioannis, Mastorodemos, Vasilios, Spilioti, Martha, Mathioudakis, Lambros, Latsoudis, Helen, Michaelidou, Kleita, Kotzamani, Dimitra, Notas, Konstantinos, Dimitrakopoulos, Konstantinos, Skoula, Irene, Ioannidis, Stefanos, Klothaki, Eirini, Erimaki, Sophia, Stavropoulos, Georgios, Vassilikos, Vassilios, Amoiridis, Georgios, Efthimiadis, Georgios, Evangeliou, Athanasios, Mitsias, Panayiotis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7711282/
https://www.ncbi.nlm.nih.gov/pubmed/33304817
http://dx.doi.org/10.1016/j.ymgmr.2020.100682

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