Fig. 5From: Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiencyProposed TK2d diagnostic algorithm [9, 28, 29]. COX, cytochrome C oxidase deficiency; CSUR, National Reference Centers; EMG, electromyography; ENT, ear, nose, and throat; MRI, magnetic resonance imaging; mtDNA, mitochondrial DNA; NIMV, non-invasive mechanical ventilation; TK2d, thymidine kinase 2 deficiencyBack to article page