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.
Abstract
摘要
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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
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Mitochondrion. 2015 Jan;20:1-6. doi: 10.1016/j.mito.2014.10.007. Epub 2014 Nov 4.
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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。
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