Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

2019115 citationsJournal Articlegreen Open Access

Authors

Cristina Domínguez‐González · Instituto de Salud Carlos III

Marcos Madruga‐Garrido · Consejo Superior de Investigaciones Científicas

Fabiola Mavillard · Instituto de Salud Carlos III

Caterina Garone · MRC Mitochondrial Biology Unit

Francisco Javier Aguirre‐Rodríguez · Complejo Hospitalario Torrecárdenas

Maria Alice Donati · Meyer Children's Hospital

Karin Kleinsteuber

Abstract

This open-label study indicates favorable side effect profiles and clinical efficacy of deoxynucleoside monophosphate and deoxynucleoside therapies for TK2 deficiency. ANN NEUROL 2019;86:293-303.

Topics & Keywords

Glycogen Storage Diseases and Myoclonus Chronic Lymphocytic Leukemia Research Parkinson's Disease and Spinal Disorders

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Annals of Neurology

Volume 86, Issue 2, pp. 293-303

DOI: 10.1002/ana.25506

Field-Weighted Citation Impact: 10.68