Mitochondrial thymidine kinase 2 (TK2) syndrome
Evidence-based neurology checklist on mitochondrial thymidine kinase 2 (tk2) syndrome: Pathology This is a mitochondrial DNA depletion syndrome (MDS) The transmission is autosomal recessive Central features Myopathic features Other clinical features Magnetic resonance imaging (MRI): muscles involved
Pathology
- This is a mitochondrial DNA depletion syndrome (MDS)
- The transmission is autosomal recessive
Central features
Myopathic features
Other clinical features
Magnetic resonance imaging (MRI): muscles involved
References
- Oskoui M, Davidzon G, Pascual J, et al. Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene. Arch Neurol 2006; 63:1122-1126.
- Götz A, Isohanni P, Pihko H, et al. Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome. Brain 2008; 131:2841-2850.
- Béhin A, Jardel C, Claeys KG, et al. Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum. Neurology 2012; 78:644-648.
- Alston CL, Schaefer AM, Raman P, et al. Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions. Neurology 2013; 81:2051-2053.
- Domínguez-González C, Fernández-Torrón R, Moore U, et al. Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis. J Neurol 2022; 269:3550-3562.
