Martín-HernándezEGarcía-SilvaMTQuijada-FrailePet al.Myopathic mtDNA depletion syndrome due to mutation in TK2 gene. Pediatr Dev Pathol2017; 20: 416–420.
2.
Finsterer J, Zarrouk-Mahjoub S. TK2-related myopathic mitochondrial depletion syndrome. Pediatr Dev Pathol. 2018;21:509–510.
3.
RoosSLindgrenUEhrstedt, MoslemiAROldforsA. Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutations. Neuromuscul Disord2014; 24: 713–720.
4.
BehinAJardelCClaeysKGet al.Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum. Neurology2012; 78: 644–648.
CamaraYCarreno-GagoLMartinMAet al.Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy. Neurology2015; 84: 2286–2288.
7.
ChanprasertSWangJWengSWet al.Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. Mol Genet Metab2013; 110: 153–161.
8.
Martín-HernándezEGarcía-SilvaMTVaraJet al.Renal pathology in children with mitocondrial diseases. Pediatr Nephrol2005; 20: 1299–1305.
9.
MartíRNascimentoAColomerJet al.Hearing loss in a patient with the myopathic form of mitocondrial DNA depletion syndrome and a novel mutation in the TK2 gene. Pediatr Res2010; 68: 151–154.
10.
MancusoMFilostoMBonillaEet al.Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene. Arch Neurol2003; 60: 1007–1009.
11.
HeJCooperHMReyesAet al.Mitochondrial nucleoid interacting proteins support mitochondrial protein synthesis. Nucleic Acids Res2012; 40: 6109–6121.