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Pearls & Oy-sters: Case Report of a Patient With Adult-Onset Thymidine Kinase 2 Gene Deficiency.

作者信息

Morganroth Jennifer, Ljungberg Lovisa, Goldstein Amy, Kallish Staci, Asher Stephanie B, Quinn Colin, Price Raymond S, Karam Chafic

机构信息

From the Department of Neurology (J.M., L.L., C.Q., R.S.P., C.K.), and Division of Translational Medicine and Human Genetics (A.G., S.K., S.B.A.), Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia.

出版信息

Neurology. 2023 Oct 17;101(16):723-727. doi: 10.1212/WNL.0000000000207678. Epub 2023 Aug 1.

DOI:10.1212/WNL.0000000000207678
PMID:37527940
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10585681/
Abstract
摘要

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本文引用的文献

1
Synergistic Deoxynucleoside and Gene Therapies for Thymidine Kinase 2 Deficiency.用于胸苷激酶2缺乏症的协同脱氧核苷和基因疗法
Ann Neurol. 2021 Oct;90(4):640-652. doi: 10.1002/ana.26185. Epub 2021 Aug 13.
2
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus.原发性线粒体疾病患者药物使用的安全性：基于国际德尔菲共识的研究。
J Inherit Metab Dis. 2020 Jul;43(4):800-818. doi: 10.1002/jimd.12196. Epub 2020 Feb 7.
3
Bright tongue sign in patients with late-onset Pompe disease.迟发性庞贝病患者的亮舌征。
J Neurol. 2019 Oct;266(10):2518-2523. doi: 10.1007/s00415-019-09455-1. Epub 2019 Jun 29.
4
Late-onset thymidine kinase 2 deficiency: a review of 18 cases.迟发性胸苷激酶 2 缺乏症 18 例临床分析
Orphanet J Rare Dis. 2019 May 6;14(1):100. doi: 10.1186/s13023-019-1071-z.
5
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.
6
Retrospective natural history of thymidine kinase 2 deficiency.胸苷激酶 2 缺乏症的回顾性自然病史。
J Med Genet. 2018 Aug;55(8):515-521. doi: 10.1136/jmedgenet-2017-105012. Epub 2018 Mar 30.
7
Treatment of mitochondrial disorders.线粒体疾病的治疗。
Curr Treat Options Neurol. 2014 Jun;16(6):292. doi: 10.1007/s11940-014-0292-7.
8
Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.常染色体隐性遗传进行性眼外肌麻痹伴多个线粒体 DNA 缺失中的胸苷激酶 2 突变。
Hum Mol Genet. 2012 Jan 1;21(1):66-75. doi: 10.1093/hmg/ddr438. Epub 2011 Sep 21.
9
Diagnostic criteria for respiratory chain disorders in adults and children.成人及儿童呼吸链疾病的诊断标准。
Neurology. 2002 Nov 12;59(9):1406-11. doi: 10.1212/01.wnl.0000033795.17156.00.
10
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.线粒体DNA耗竭性肌病中的突变型线粒体胸苷激酶
Nat Genet. 2001 Nov;29(3):342-4. doi: 10.1038/ng751.