Abstract
Thymidine kinase 2 (TK2) deficiency is an ultra-rare mitochondrial DNA replication disorder characterized by progressive muscle weakness that may lead to loss of ambulation, need for ventilatory support, and death. Severity varies by age of onset and there is no approved therapy. Understanding the course of untreated disease is important to evaluate new therapies under development. The objective of this analysis was to characterize the morbidity and mortality of patients with TK2 deficiency. A systematic literature review was conducted to identify unique patients with individual-level data and genetically confirmed TK2 deficiency to generate an untreated patient dataset (UPD).
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