The diagnosis of myotonic dystrophy type 2 in a patient with calpainopathy requires the determination of CCTG expansion.
作者信息
Finsterer Josef
机构信息
Neurology and Neurophysiology Center, Vienna, Austria.
出版信息
Postep Psychiatr Neurol. 2025 Mar;34(1):58-59. doi: 10.5114/ppn.2025.149985. Epub 2025 Apr 30.
Abstract
摘要
相似文献
1
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.
2
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.
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.
5
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.
6
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。
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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
Myotonic dystrophy type 2.2型强直性肌营养不良症
Eur J Neurol. 2002 Sep;9(5):441-7. doi: 10.1046/j.1468-1331.2002.00453.x.
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