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

Background: Recessive mutations in the thymidine kinase 2 ( 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 with TK2-deficient myopathy?

Study Design And Methods: Retrospective observational study of patients treated with deoxycytidine and deoxythymidine.