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

ABSTRACT: 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. What is the impact of nucleosides in respiratory function in patients with TK2-deficient myopathy? Retrospective observational study of patients treated with deoxycytidine and deoxythymidine. Evaluations were performed every 3 to 4 months after treatment during approximately 30 months. Forced vital capacity (FVC), maximuminspiratory and expiratory pressures (MIP/MEP), sniff nasal inspiratory pressure (SNIP), cough peak flow (CPF), arterial blood gas and nocturnal pulse oximeter (SpO2) were collected. We studied six patients, five of which were women, with a median age at onset of symptoms was

SUBMITTER: Hernandez-Voth A 

PROVIDER: S-EPMC7703425 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature