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Deoxynucleoside therapy for respiratory involvement in adult patients with thymidine kinase 2-deficient myopathy

BACKGROUND: Recessive mutations in the thymidine kinase 2 (TK2) gene cause a rare mitochondrial myopathy, frequently with severe respiratory involvement. Deoxynucleoside therapy is currently under investigation. RESEARCH QUESTION: What is the impact of nucleosides in respiratory function in patients...

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Detalles Bibliográficos
Autores principales: Hernandez-Voth, Ana, Sayas Catalan, Javier, Corral Blanco, Marta, Castaño Mendez, Alba, Martin, Miguel Angel, De Fuenmayor Fernandez de la Hoz, Carlos, Villena Garrido, Victoria, Dominguez-Gonzalez, Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7703425/
https://www.ncbi.nlm.nih.gov/pubmed/33246973
http://dx.doi.org/10.1136/bmjresp-2020-000774