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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2020
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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 |
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