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1
TK2-related mitochondrial disorder is not restricted to the skeletal muscle.与TK2相关的线粒体疾病并不局限于骨骼肌。
Mol Genet Metab Rep. 2018 Jun 9;16:13-14. doi: 10.1016/j.ymgmr.2018.06.003. eCollection 2018 Sep.
2
Case Report: Thymidine Kinase 2 (TK2) Deficiency: A Novel Mutation Associated With Childhood-Onset Mitochondrial Myopathy and Atypical Progression.病例报告：胸苷激酶2（TK2）缺乏症：一种与儿童期起病的线粒体肌病及非典型病程相关的新突变。
Front Neurol. 2022 Feb 25;13:857279. doi: 10.3389/fneur.2022.857279. eCollection 2022.
3
Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum.因 TK2 缺陷导致的线粒体 DNA 耗竭症的成人病例：不断扩展的疾病谱。
Neurology. 2012 Feb 28;78(9):644-8. doi: 10.1212/WNL.0b013e318248df2b. Epub 2012 Feb 15.
4
mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency.线粒体DNA耗竭性肌病：线粒体胸苷激酶（TK2）缺乏症组织特异性的阐明
Mol Genet Metab. 2003 May;79(1):1-5. doi: 10.1016/s1096-7192(03)00063-5.
5
A defect in the thymidine kinase 2 gene causing isolated mitochondrial myopathy without mtDNA depletion.胸苷激酶2基因缺陷导致孤立性线粒体肌病且无线粒体DNA耗竭。
Eur J Paediatr Neurol. 2008 Jul;12(4):309-13. doi: 10.1016/j.ejpn.2007.09.005. Epub 2007 Oct 22.
6
Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutations.一名患有新型TK2突变患者单纤维中的线粒体DNA耗竭
Neuromuscul Disord. 2014 Aug;24(8):713-20. doi: 10.1016/j.nmd.2014.05.009. Epub 2014 May 29.
7
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.突变导致的胸苷激酶（TK2）基因的肌病型线粒体 DNA 耗竭综合征的分子和临床特征。
Mol Genet Metab. 2013 Sep-Oct;110(1-2):153-61. doi: 10.1016/j.ymgme.2013.07.009. Epub 2013 Jul 17.
8
Age-related metabolic changes limit efficacy of deoxynucleoside-based therapy in thymidine kinase 2-deficient mice.年龄相关的代谢变化限制了基于脱氧核苷的治疗在胸苷激酶 2 缺陷小鼠中的疗效。
EBioMedicine. 2019 Aug;46:342-355. doi: 10.1016/j.ebiom.2019.07.042. Epub 2019 Jul 24.
9
Recent advances in thymidine kinase 2 (TK2) inhibitors and new perspectives for potential applications.胸腺嘧啶激酶 2（TK2）抑制剂的最新进展及潜在应用的新视角。
Curr Pharm Des. 2012;18(20):2981-94. doi: 10.2174/138161212800672787.
10
Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.与线粒体DNA耗竭及胸苷激酶2（TK2）基因纯合突变（T77M）相关的儿童线粒体肌病。
Arch Neurol. 2003 Jul;60(7):1007-9. doi: 10.1001/archneur.60.7.1007.

引用本文的文献

1
Pathological Features in Paediatric Patients with TK2 Deficiency.儿童 TK2 缺乏症患者的病理特征。
Int J Mol Sci. 2022 Sep 20;23(19):11002. doi: 10.3390/ijms231911002.
2
Extra-muscular manifestations of TK2 deficiency.TK2缺乏的肌肉外表现。
Mol Genet Metab Rep. 2018 Jun 21;16:30. doi: 10.1016/j.ymgmr.2018.06.004. eCollection 2018 Sep.

本文引用的文献

1
Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.与胸苷激酶 2 相关的线粒体 DNA 维持缺陷的临床和分子谱。
Mol Genet Metab. 2018 Jun;124(2):124-130. doi: 10.1016/j.ymgme.2018.04.012. Epub 2018 Apr 28.
2
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.胸苷激酶2和丙氨酰-tRNA合成酶2缺乏导致致死性线粒体心肌病：病例报告及文献综述
Cardiol Young. 2017 Jul;27(5):936-944. doi: 10.1017/S1047951116001876. Epub 2016 Nov 14.
3
Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus.全外显子组测序的临床应用揭示了两兄弟中一种新的复合杂合性TK2突变，他们患有快速进展性联合肌肉-脑萎缩、轴索性神经病和癫痫持续状态。
Mitochondrion. 2015 Jan;20:1-6. doi: 10.1016/j.mito.2014.10.007. Epub 2014 Nov 4.
4
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.胸苷激酶2缺陷可导致多组织线粒体DNA耗竭综合征。
Brain. 2008 Nov;131(Pt 11):2841-50. doi: 10.1093/brain/awn236. Epub 2008 Sep 26.
5
Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes.对两名脱氧鸟苷激酶和胸苷激酶2基因发生新突变的线粒体DNA耗竭综合征患者的分子洞察。
Mol Genet Metab. 2005 Jan;84(1):75-82. doi: 10.1016/j.ymgme.2004.09.005.

TK2-related mitochondrial disorder is not restricted to the skeletal muscle.

作者信息

Finsterer Josef, Scorza Fulvio A, Fiorini Ana C, de Almeida Antonio-Carlos G, Scorza Carla A

机构信息

Krankenanstalt Rudolfstiftung, Messerli Institute, Veterinary University of Vienna, Vienna, Austria.

Disciplina de Neurociência, Escola Paulista de Medicina/Universidade Federal de São Paulo (EPM/UNIFESP), São Paulo, Brazil.

出版信息

Mol Genet Metab Rep. 2018 Jun 9;16:13-14. doi: 10.1016/j.ymgmr.2018.06.003. eCollection 2018 Sep.

DOI:10.1016/j.ymgmr.2018.06.003
PMID:29988795
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6031889/
Abstract
摘要