Reply to the Letter to the Editor on "The diagnosis of myotonic dystrophy type 2 in a patient with calpainopathy requires the determination of CCTG expansion" [].
作者信息
Radziwonik-Frączyk Wiktoria, Sułek Anna, Elert-Dobkowska Ewelina
机构信息
Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
Faculty of Medicine, Lazarski University, Warsaw, Poland.
出版信息
Postep Psychiatr Neurol. 2025 Mar;34(1):60-61. doi: 10.5114/ppn.2025.149986. Epub 2025 Apr 30.
Abstract
摘要
相似文献
1
Reply to the Letter to the Editor on "The diagnosis of myotonic dystrophy type 2 in a patient with calpainopathy requires the determination of CCTG expansion" [].对致编辑的信《关于“在一名患有钙蛋白酶病的患者中诊断2型强直性肌营养不良需要测定CCTG扩增”》的回复 ［］。
Postep Psychiatr Neurol. 2025 Mar;34(1):60-61. doi: 10.5114/ppn.2025.149986. Epub 2025 Apr 30.
2
The diagnosis of myotonic dystrophy type 2 in a patient with calpainopathy requires the determination of CCTG expansion.对于患有钙蛋白酶病的患者，2型强直性肌营养不良症的诊断需要确定CCTG扩增情况。
Postep Psychiatr Neurol. 2025 Mar;34(1):58-59. doi: 10.5114/ppn.2025.149985. Epub 2025 Apr 30.
3
Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.不同欧洲血统的近端强直性肌病/近端强直性肌营养不良患者2型强直性肌营养不良（CCTG）n重复突变的确认：单一共享单倍型表明存在祖先奠基者效应。
Am J Hum Genet. 2003 Oct;73(4):835-48. doi: 10.1086/378566. Epub 2003 Sep 10.
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New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2).2型强直性肌营养不良症（DM2）中（CCTG）n突变的分子诊断和验证新方法。
Neuromuscul Disord. 2004 Apr;14(4):274-83. doi: 10.1016/j.nmd.2004.01.002.
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The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome.导致肌强直性营养不良 2 型的不稳定 CCTG 重复序列来源于 AluSx 元件插入早期灵长类动物基因组。
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Effects of interrupting residues on DNA dumbbell structures formed by CCTG tetranucleotide repeats associated with myotonic dystrophy type 2.中断残基对与肌强直性营养不良 2 型相关的 CCTG 四核苷酸重复形成的 DNA 哑铃结构的影响。
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Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients.扩展的 [CCTG]n 重复与肌强直性营养不良 2 型（DM2）患者的 CNBP 基因座异常甲基化无关。
Biochim Biophys Acta Mol Basis Dis. 2018 Mar;1864(3):917-924. doi: 10.1016/j.bbadis.2017.12.037. Epub 2017 Dec 29.
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Molecular Diagnosis of Myotonic Dystrophy.强直性肌营养不良症的分子诊断
Curr Protoc Hum Genet. 2016 Oct 11;91:9.29.1-9.29.19. doi: 10.1002/cphg.22.
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Uninterrupted CCTG tracts in the myotonic dystrophy type 2 associated locus.未受干扰的强直性肌营养不良症 2 型相关基因座中的 CCTG 串联重复。
Neuromuscul Disord. 2013 Jul;23(7):591-8. doi: 10.1016/j.nmd.2013.02.013. Epub 2013 Apr 2.
本文引用的文献
1
Co-occurrence of homozygous mutation and CCTG expansion in the gene in a patient with muscular dystrophy.一名肌营养不良患者该基因中纯合突变与CCTG扩增同时出现。
Postep Psychiatr Neurol. 2024 Jun;33(2):109-114. doi: 10.5114/ppn.2024.141382. Epub 2024 Jul 24.
2
Distribution and Structure of DM2 Repeat Tract Alleles in the German Population.德国人群中DM2重复序列等位基因的分布与结构
Front Neurol. 2018 Jun 19;9:463. doi: 10.3389/fneur.2018.00463. eCollection 2018.
3
Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.
Neurol Neurochir Pol. 2018 Nov-Dec;52(6):736-742. doi: 10.1016/j.pjnns.2018.02.008. Epub 2018 Mar 7.
4
Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.肌强直性营养不良 1 型和 2 型的分子诊断最佳实践指南和建议。
Eur J Hum Genet. 2012 Dec;20(12):1203-8. doi: 10.1038/ejhg.2012.108. Epub 2012 May 30.
5
Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2).四联体引物聚合酶链反应（TP-PCR）在肌强直性营养不良 2 型（DM2）分子诊断中的灵敏度和特异性验证。
J Mol Diagn. 2010 Sep;12(5):601-6. doi: 10.2353/jmoldx.2010.090239. Epub 2010 Jul 8.
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