TK2-related mitochondrial disorder is not restricted to the skeletal muscle
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference5 articles.
1. Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect;Wang;Mol. Genet. Metab.,2018
2. 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;Knierim;Mitochondrion,2015
3. Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome;Götz;Brain,2008
4. Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes;Wang;Mol. Genet. Metab.,2005
5. Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature;Mazurova;Cardiol. Young,2017
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Clinical case of infantile form of TK-2 associated myopathy, success of nucleoside therapy;Russian Journal for Personalized Medicine;2024-09-13
2. Pathological Features in Paediatric Patients with TK2 Deficiency;International Journal of Molecular Sciences;2022-09-20
3. Extra-muscular manifestations of TK2 deficiency;Molecular Genetics and Metabolism Reports;2018-09
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