Diagnosing mitochondrial, neurogastrointestinal leukoencephalopathy requires mutations in TYMP1, POLG1, LIG1, or RRM2B.
作者信息
Finsterer Josef
机构信息
Neurology and Neurophysiology Center, Postfach 20, 1180, Vienna, Austria.
出版信息
J Med Case Rep. 2023 Apr 14;17(1):162. doi: 10.1186/s13256-023-03916-y.
Abstract
摘要
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Diagnosing mitochondrial, neurogastrointestinal leukoencephalopathy requires mutations in TYMP1, POLG1, LIG1, or RRM2B.诊断线粒体神经胃肠性脑白质病需要TYMP1、POLG1、LIG1或RRM2B发生突变。
J Med Case Rep. 2023 Apr 14;17(1):162. doi: 10.1186/s13256-023-03916-y.
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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.线粒体神经胃肠脑肌病（MNGIE）样表型：POLG1 突变的扩展临床谱。
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本文引用的文献
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Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report.巴基斯坦女性的线粒体神经胃肠脑肌病：病例报告。
J Med Case Rep. 2022 Oct 3;16(1):363. doi: 10.1186/s13256-022-03582-6.
2
Quantitation of Pyrimidine in Urine by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry.尿液中嘧啶的超高效液相色谱-串联质谱法定量分析。
Methods Mol Biol. 2022;2546:431-437. doi: 10.1007/978-1-0716-2565-1_38.
3
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.LIG3 中的双等位基因变异导致新型线粒体神经胃肠脑肌病。
Brain. 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056.
4
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.线粒体神经胃肠脑肌病（MNGIE）样表型：POLG1 突变的扩展临床谱。
J Neurol. 2012 May;259(5):862-8. doi: 10.1007/s00415-011-6268-6. Epub 2011 Oct 13.
5
Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.由于RRM2B基因突变导致的线粒体神经胃肠性脑病
Arch Neurol. 2009 Aug;66(8):1028-32. doi: 10.1001/archneurol.2009.139.
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